Canonical Allele Identifier: CA398606429
Gene: MYO15A HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.18049217A>T (hg19) chr17:g.18145903A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18145903A>T , CM000679.2:g.18145903A>T GRCh38
NC_000017.10:g.18049217A>T , CM000679.1:g.18049217A>T GRCh37
NC_000017.9:g.17989942A>T NCBI36
NG_011634.1:g.42198A>T
NG_011634.2:g.42198A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6305A>T MANE Select ENSP00000495481.1:p.His2102Leu
ENST00000205890.9:c.6305A>T ENSP00000205890.5:p.His2102Leu
ENST00000615845.4:c.6305A>T ENSP00000481642.1:p.His2102Leu
NM_016239.3:c.6305A>T NP_057323.3:p.His2102Leu
XM_011523917.1:c.6245A>T XP_011522219.1:p.His2082Leu
XM_011523918.1:c.6245A>T XP_011522220.1:p.His2082Leu
XM_011523921.1:c.6299A>T XP_011522223.1:p.His2100Leu
XR_934037.1:n.6904A>T
XR_934038.1:n.6904A>T
XM_011523918.2:c.6245A>T XP_011522220.1:p.His2082Leu
XM_017024714.2:c.6245A>T XP_016880203.1:p.His2082Leu
XM_017024715.2:c.6308A>T XP_016880204.1:p.His2103Leu
XM_024450781.1:c.6213+1311A>T XP_024306549.1:n.6213+1311A>T
NM_016239.4:c.6305A>T MANE Select NP_057323.3:p.His2102Leu
Search 100 bp 5'
Search 100 bp 3'