Canonical Allele Identifier: CA498430447
Gene: MYO15A HGNC NCBI

Linked Data

ClinVar Variation Id: 2817878
ClinVar RCV Id: RCV003711453
dbSNP Id: rs2046471601
gnomAD v4: 17-18145925-C-T
MyVariant Identifiers: chr17:g.18049239C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18145925C>T , CM000679.2:g.18145925C>T GRCh38
NC_000017.10:g.18049239C>T , CM000679.1:g.18049239C>T GRCh37
NC_000017.9:g.17989964C>T NCBI36
NG_011634.1:g.42220C>T
NG_011634.2:g.42220C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6327C>T MANE Select ENSP00000495481.1:p.Phe2109=
ENST00000205890.9:c.6327C>T ENSP00000205890.5:p.Phe2109=
ENST00000615845.4:c.6327C>T ENSP00000481642.1:p.Phe2109=
NM_016239.3:c.6327C>T NP_057323.3:p.Phe2109=
XM_011523917.1:c.6267C>T XP_011522219.1:p.Phe2089=
XM_011523918.1:c.6267C>T XP_011522220.1:p.Phe2089=
XM_011523921.1:c.6321C>T XP_011522223.1:p.Phe2107=
XR_934037.1:n.6926C>T
XR_934038.1:n.6926C>T
XM_011523918.2:c.6267C>T XP_011522220.1:p.Phe2089=
XM_017024714.2:c.6267C>T XP_016880203.1:p.Phe2089=
XM_017024715.2:c.6330C>T XP_016880204.1:p.Phe2110=
XM_024450781.1:c.6213+1333C>T XP_024306549.1:n.6213+1333C>T
NM_016239.4:c.6327C>T MANE Select NP_057323.3:p.Phe2109=
Search 100 bp 5'
Search 100 bp 3'