Canonical Allele Identifier: CA397724142
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126110C>G (hg19) chr17:g.7222791C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222791C>G , CM000679.2:g.7222791C>G GRCh38
NC_000017.10:g.7126110C>G , CM000679.1:g.7126110C>G GRCh37
NC_000017.9:g.7066834C>G NCBI36
NG_007975.1:g.7958C>G
NG_008391.2:g.2260G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1003C>G MANE Select ENSP00000349297.5:p.His335Asp
ENST00000322910.9:c.*958C>G ENSP00000325395.5:n.*958C>G
ENST00000350303.9:c.937C>G ENSP00000344152.5:p.His313Asp
ENST00000356839.9:c.1003C>G ENSP00000349297.5:p.His335Asp
ENST00000543245.6:c.1072C>G ENSP00000438689.2:p.His358Asp
ENST00000578824.5:n.152C>G
ENST00000581378.5:c.721C>G
ENST00000582379.1:n.387C>G
ENST00000583858.5:c.32C>G
NM_000018.3:c.1003C>G NP_000009.1:p.His335Asp
NM_001033859.2:c.937C>G NP_001029031.1:p.His313Asp
NM_001270447.1:c.1072C>G NP_001257376.1:p.His358Asp
NM_001270448.1:c.775C>G NP_001257377.1:p.His259Asp
XM_006721516.2:c.1003C>G XP_006721579.2:p.His335Asp
XM_011523829.1:c.1003C>G XP_011522131.1:p.His335Asp
XM_011523830.1:c.1003C>G XP_011522132.1:p.His335Asp
XR_934021.1:n.1110C>G
XR_934022.1:n.1110C>G
XR_934023.1:n.1110C>G
XM_006721516.3:c.1003C>G XP_006721579.2:p.His335Asp
XM_011523829.2:c.1003C>G XP_011522131.1:p.His335Asp
XM_011523830.2:c.1003C>G XP_011522132.1:p.His335Asp
XM_024450741.1:c.1003C>G XP_024306509.1:p.His335Asp
XR_934021.2:n.1062C>G
XR_934022.2:n.1062C>G
XR_934023.2:n.1062C>G
NM_000018.4:c.1003C>G MANE Select NP_000009.1:p.His335Asp
NM_001033859.3:c.937C>G NP_001029031.1:p.His313Asp
NM_001270447.2:c.1072C>G NP_001257376.1:p.His358Asp
NM_001270448.2:c.775C>G NP_001257377.1:p.His259Asp
Search 100 bp 5'
Search 100 bp 3'