Canonical Allele Identifier: CA8424741

Gene: MYO15A

Linked Data

• dbSNP Id: rs371020749
• ExAC: 17:18052769 G / C
• gnomAD v2: 17-18052769-G-C
• gnomAD v3: 17-18149455-G-C
• gnomAD v4: 17-18149455-G-C
• MyVariant Identifiers: chr17:g.18052769G>C (hg19) ; chr17:g.18149455G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18149455G>C , CM000679.2:g.18149455G>C	GRCh38
NC_000017.10:g.18052769G>C , CM000679.1:g.18052769G>C	GRCh37
NC_000017.9:g.17993494G>C	NCBI36
NG_011634.1:g.45750G>C
NG_011634.2:g.45750G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.7118-31G>C MANE Select	ENSP00000495481.1:n.7118-31G>C
ENST00000205890.9:c.7118-31G>C	ENSP00000205890.5:n.7118-31G>C
ENST00000578999.1:n.708G>C
ENST00000615845.4:c.7118-31G>C	ENSP00000481642.1:n.7118-31G>C
NM_016239.3:c.7118-31G>C	NP_057323.3:n.7118-31G>C
XM_011523917.1:c.6793-31G>C	XP_011522219.1:n.6793-31G>C
XM_011523921.1:c.7112-31G>C	XP_011522223.1:n.7112-31G>C
XR_934037.1:n.7452-31G>C
XR_934038.1:n.7404-31G>C
XR_934293.1:n.435-1849C>G
XR_934295.1:n.254-1849C>G
XM_017024714.2:c.7058-31G>C	XP_016880203.1:n.7058-31G>C
XM_017024715.2:c.7121-31G>C	XP_016880204.1:n.7121-31G>C
XR_934293.2:n.378-1849C>G
NM_016239.4:c.7118-31G>C MANE Select	NP_057323.3:n.7118-31G>C