Canonical Allele Identifier: CA345012590

Gene: TMEM63A

Linked Data

• MyVariant Identifiers: chr1:g.226040416A>G (hg19) ; chr1:g.225852715A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225852715A>G , CM000663.2:g.225852715A>G	GRCh38
NC_000001.10:g.226040416A>G , CM000663.1:g.226040416A>G	GRCh37
NC_000001.9:g.224107039A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000366835.8:c.1852T>C MANE Select	ENSP00000355800.3:p.Phe618Leu
ENST00000366835.7:c.1852T>C	ENSP00000355800.3:p.Phe618Leu
NM_014698.2:c.1852T>C	NP_055513.2:p.Phe618Leu
XM_006711841.2:c.1321T>C	XP_006711904.1:p.Phe441Leu
XM_011544328.1:c.1852T>C	XP_011542630.1:p.Phe618Leu
XM_011544329.1:c.1852T>C	XP_011542631.1:p.Phe618Leu
XM_011544330.1:c.1852T>C	XP_011542632.1:p.Phe618Leu
XM_011544331.1:c.1765T>C	XP_011542633.1:p.Phe589Leu
XM_011544332.1:c.1411T>C	XP_011542634.1:p.Phe471Leu
XR_949163.1:n.2157T>C
XM_006711841.4:c.1321T>C	XP_006711904.1:p.Phe441Leu
XM_011544328.3:c.1852T>C	XP_011542630.1:p.Phe618Leu
XM_011544329.3:c.1852T>C	XP_011542631.1:p.Phe618Leu
XM_011544330.3:c.1852T>C	XP_011542632.1:p.Phe618Leu
XM_011544331.3:c.1765T>C	XP_011542633.1:p.Phe589Leu
XM_011544332.3:c.1411T>C	XP_011542634.1:p.Phe471Leu
XR_001737552.2:n.1939T>C
XR_949163.3:n.2136T>C
NM_014698.3:c.1852T>C MANE Select	NP_055513.2:p.Phe618Leu