Canonical Allele Identifier: CA288410514

Gene: MYO15A

Linked Data

• dbSNP Id: rs200677651
• gnomAD v3: 17-18150454-C-A
• gnomAD v4: 17-18150454-C-A
• MyVariant Identifiers: chr17:g.18053768C>A (hg19) ; chr17:g.18150454C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18150454C>A , CM000679.2:g.18150454C>A	GRCh38
NC_000017.10:g.18053768C>A , CM000679.1:g.18053768C>A	GRCh37
NC_000017.9:g.17994493C>A	NCBI36
NG_011634.1:g.46749C>A
NG_011634.2:g.46749C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.7238C>A MANE Select	ENSP00000495481.1:p.Ala2413Asp
ENST00000205890.9:c.7238C>A	ENSP00000205890.5:p.Ala2413Asp
ENST00000615845.4:c.7238C>A	ENSP00000481642.1:p.Ala2413Asp
NM_016239.3:c.7238C>A	NP_057323.3:p.Ala2413Asp
XM_011523917.1:c.6913C>A	XP_011522219.1:p.Pro2305Thr
XM_011523921.1:c.7232C>A	XP_011522223.1:p.Ala2411Asp
XR_934037.1:n.7572C>A
XR_934038.1:n.7524C>A
XR_934293.1:n.434+1149G>T
XR_934294.1:n.435-681G>T
XR_934295.1:n.253+1149G>T
XM_017024714.2:c.7178C>A	XP_016880203.1:p.Ala2393Asp
XM_017024715.2:c.7241C>A	XP_016880204.1:p.Ala2414Asp
XR_934293.2:n.377+1149G>T
XR_934294.2:n.378-681G>T
NM_016239.4:c.7238C>A MANE Select	NP_057323.3:p.Ala2413Asp