Canonical Allele Identifier: CA398617294

Gene: MYO15A

Linked Data

• dbSNP Id: rs2046559325
• MyVariant Identifiers: chr17:g.18053767G>A (hg19) ; chr17:g.18150453G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18150453G>A , CM000679.2:g.18150453G>A	GRCh38
NC_000017.10:g.18053767G>A , CM000679.1:g.18053767G>A	GRCh37
NC_000017.9:g.17994492G>A	NCBI36
NG_011634.1:g.46748G>A
NG_011634.2:g.46748G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.7237G>A MANE Select	ENSP00000495481.1:p.Ala2413Thr
ENST00000205890.9:c.7237G>A	ENSP00000205890.5:p.Ala2413Thr
ENST00000615845.4:c.7237G>A	ENSP00000481642.1:p.Ala2413Thr
NM_016239.3:c.7237G>A	NP_057323.3:p.Ala2413Thr
XM_011523917.1:c.6912G>A	XP_011522219.1:p.Leu2304=
XM_011523921.1:c.7231G>A	XP_011522223.1:p.Ala2411Thr
XR_934037.1:n.7571G>A
XR_934038.1:n.7523G>A
XR_934293.1:n.434+1150C>T
XR_934294.1:n.435-680C>T
XR_934295.1:n.253+1150C>T
XM_017024714.2:c.7177G>A	XP_016880203.1:p.Ala2393Thr
XM_017024715.2:c.7240G>A	XP_016880204.1:p.Ala2414Thr
XR_934293.2:n.377+1150C>T
XR_934294.2:n.378-680C>T
NM_016239.4:c.7237G>A MANE Select	NP_057323.3:p.Ala2413Thr