Canonical Allele Identifier: CA398614763

Gene: MYO15A

Linked Data

• MyVariant Identifiers: chr17:g.18052800A>C (hg19) ; chr17:g.18149486A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18149486A>C , CM000679.2:g.18149486A>C	GRCh38
NC_000017.10:g.18052800A>C , CM000679.1:g.18052800A>C	GRCh37
NC_000017.9:g.17993525A>C	NCBI36
NG_011634.1:g.45781A>C
NG_011634.2:g.45781A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.7118A>C MANE Select	ENSP00000495481.1:p.Glu2373Ala
ENST00000205890.9:c.7118A>C	ENSP00000205890.5:p.Glu2373Ala
ENST00000578999.1:n.739A>C
ENST00000615845.4:c.7118A>C	ENSP00000481642.1:p.Glu2373Ala
NM_016239.3:c.7118A>C	NP_057323.3:p.Glu2373Ala
XM_011523917.1:c.6793A>C	XP_011522219.1:p.Ser2265Arg
XM_011523921.1:c.7112A>C	XP_011522223.1:p.Glu2371Ala
XR_934037.1:n.7452A>C
XR_934038.1:n.7404A>C
XR_934293.1:n.435-1880T>G
XR_934295.1:n.254-1880T>G
XM_017024714.2:c.7058A>C	XP_016880203.1:p.Glu2353Ala
XM_017024715.2:c.7121A>C	XP_016880204.1:p.Glu2374Ala
XR_934293.2:n.378-1880T>G
NM_016239.4:c.7118A>C MANE Select	NP_057323.3:p.Glu2373Ala