Canonical Allele Identifier: CA8424744

Gene: MYO15A

Linked Data

• dbSNP Id: rs760270530
• ExAC: 17:18052784 G / A
• gnomAD v2: 17-18052784-G-A
• gnomAD v4: 17-18149470-G-A
• MyVariant Identifiers: chr17:g.18052784G>A (hg19) ; chr17:g.18149470G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18149470G>A , CM000679.2:g.18149470G>A	GRCh38
NC_000017.10:g.18052784G>A , CM000679.1:g.18052784G>A	GRCh37
NC_000017.9:g.17993509G>A	NCBI36
NG_011634.1:g.45765G>A
NG_011634.2:g.45765G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.7118-16G>A MANE Select	ENSP00000495481.1:n.7118-16G>A
ENST00000205890.9:c.7118-16G>A	ENSP00000205890.5:n.7118-16G>A
ENST00000578999.1:n.723G>A
ENST00000615845.4:c.7118-16G>A	ENSP00000481642.1:n.7118-16G>A
NM_016239.3:c.7118-16G>A	NP_057323.3:n.7118-16G>A
XM_011523917.1:c.6793-16G>A	XP_011522219.1:n.6793-16G>A
XM_011523921.1:c.7112-16G>A	XP_011522223.1:n.7112-16G>A
XR_934037.1:n.7452-16G>A
XR_934038.1:n.7404-16G>A
XR_934293.1:n.435-1864C>T
XR_934295.1:n.254-1864C>T
XM_017024714.2:c.7058-16G>A	XP_016880203.1:n.7058-16G>A
XM_017024715.2:c.7121-16G>A	XP_016880204.1:n.7121-16G>A
XR_934293.2:n.378-1864C>T
NM_016239.4:c.7118-16G>A MANE Select	NP_057323.3:n.7118-16G>A