Canonical Allele Identifier: CA398606659

Gene: MYO15A

Linked Data

• dbSNP Id: rs1597798438
• MyVariant Identifiers: chr17:g.18049271T>G (hg19) ; chr17:g.18145957T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18145957T>G , CM000679.2:g.18145957T>G	GRCh38
NC_000017.10:g.18049271T>G , CM000679.1:g.18049271T>G	GRCh37
NC_000017.9:g.17989996T>G	NCBI36
NG_011634.1:g.42252T>G
NG_011634.2:g.42252T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.6359T>G MANE Select	ENSP00000495481.1:p.Val2120Gly
ENST00000205890.9:c.6359T>G	ENSP00000205890.5:p.Val2120Gly
ENST00000615845.4:c.6359T>G	ENSP00000481642.1:p.Val2120Gly
NM_016239.3:c.6359T>G	NP_057323.3:p.Val2120Gly
XM_011523917.1:c.6299T>G	XP_011522219.1:p.Val2100Gly
XM_011523918.1:c.6299T>G	XP_011522220.1:p.Val2100Gly
XM_011523921.1:c.6353T>G	XP_011522223.1:p.Val2118Gly
XR_934037.1:n.6958T>G
XR_934038.1:n.6958T>G
XM_011523918.2:c.6299T>G	XP_011522220.1:p.Val2100Gly
XM_017024714.2:c.6299T>G	XP_016880203.1:p.Val2100Gly
XM_017024715.2:c.6362T>G	XP_016880204.1:p.Val2121Gly
XM_024450781.1:c.6213+1365T>G	XP_024306549.1:n.6213+1365T>G
NM_016239.4:c.6359T>G MANE Select	NP_057323.3:p.Val2120Gly