Canonical Allele Identifier: CA398606399

Gene: MYO15A

Linked Data

• gnomAD v4: 17-18145896-C-A
• MyVariant Identifiers: chr17:g.18049210C>A (hg19) ; chr17:g.18145896C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18145896C>A , CM000679.2:g.18145896C>A	GRCh38
NC_000017.10:g.18049210C>A , CM000679.1:g.18049210C>A	GRCh37
NC_000017.9:g.17989935C>A	NCBI36
NG_011634.1:g.42191C>A
NG_011634.2:g.42191C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.6298C>A MANE Select	ENSP00000495481.1:p.His2100Asn
ENST00000205890.9:c.6298C>A	ENSP00000205890.5:p.His2100Asn
ENST00000615845.4:c.6298C>A	ENSP00000481642.1:p.His2100Asn
NM_016239.3:c.6298C>A	NP_057323.3:p.His2100Asn
XM_011523917.1:c.6238C>A	XP_011522219.1:p.His2080Asn
XM_011523918.1:c.6238C>A	XP_011522220.1:p.His2080Asn
XM_011523921.1:c.6292C>A	XP_011522223.1:p.His2098Asn
XR_934037.1:n.6897C>A
XR_934038.1:n.6897C>A
XM_011523918.2:c.6238C>A	XP_011522220.1:p.His2080Asn
XM_017024714.2:c.6238C>A	XP_016880203.1:p.His2080Asn
XM_017024715.2:c.6301C>A	XP_016880204.1:p.His2101Asn
XM_024450781.1:c.6213+1304C>A	XP_024306549.1:n.6213+1304C>A
NM_016239.4:c.6298C>A MANE Select	NP_057323.3:p.His2100Asn