Canonical Allele Identifier: CA398617237

Gene: MYO15A

Linked Data

• dbSNP Id: rs2046559189
• gnomAD v4: 17-18150445-C-G
• MyVariant Identifiers: chr17:g.18053759C>G (hg19) ; chr17:g.18150445C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18150445C>G , CM000679.2:g.18150445C>G	GRCh38
NC_000017.10:g.18053759C>G , CM000679.1:g.18053759C>G	GRCh37
NC_000017.9:g.17994484C>G	NCBI36
NG_011634.1:g.46740C>G
NG_011634.2:g.46740C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.7229C>G MANE Select	ENSP00000495481.1:p.Thr2410Arg
ENST00000205890.9:c.7229C>G	ENSP00000205890.5:p.Thr2410Arg
ENST00000615845.4:c.7229C>G	ENSP00000481642.1:p.Thr2410Arg
NM_016239.3:c.7229C>G	NP_057323.3:p.Thr2410Arg
XM_011523917.1:c.6904C>G	XP_011522219.1:p.Gln2302Glu
XM_011523921.1:c.7223C>G	XP_011522223.1:p.Thr2408Arg
XR_934037.1:n.7563C>G
XR_934038.1:n.7515C>G
XR_934293.1:n.434+1158G>C
XR_934294.1:n.435-672G>C
XR_934295.1:n.253+1158G>C
XM_017024714.2:c.7169C>G	XP_016880203.1:p.Thr2390Arg
XM_017024715.2:c.7232C>G	XP_016880204.1:p.Thr2411Arg
XR_934293.2:n.377+1158G>C
XR_934294.2:n.378-672G>C
NM_016239.4:c.7229C>G MANE Select	NP_057323.3:p.Thr2410Arg