Canonical Allele Identifier: CA423508225

Gene: TMEM63A

Linked Data

• dbSNP Id: rs1198035270
• gnomAD v3: 1-225852740-G-C
• gnomAD v4: 1-225852740-G-C
• MyVariant Identifiers: chr1:g.226040441G>C (hg19) ; chr1:g.225852740G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225852740G>C , CM000663.2:g.225852740G>C	GRCh38
NC_000001.10:g.226040441G>C , CM000663.1:g.226040441G>C	GRCh37
NC_000001.9:g.224107064G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366835.8:c.1827C>G MANE Select	ENSP00000355800.3:p.Ala609=
ENST00000366835.7:c.1827C>G	ENSP00000355800.3:p.Ala609=
NM_014698.2:c.1827C>G	NP_055513.2:p.Ala609=
XM_006711841.2:c.1296C>G	XP_006711904.1:p.Ala432=
XM_011544328.1:c.1827C>G	XP_011542630.1:p.Ala609=
XM_011544329.1:c.1827C>G	XP_011542631.1:p.Ala609=
XM_011544330.1:c.1827C>G	XP_011542632.1:p.Ala609=
XM_011544331.1:c.1740C>G	XP_011542633.1:p.Ala580=
XM_011544332.1:c.1386C>G	XP_011542634.1:p.Ala462=
XR_949163.1:n.2132C>G
XM_006711841.4:c.1296C>G	XP_006711904.1:p.Ala432=
XM_011544328.3:c.1827C>G	XP_011542630.1:p.Ala609=
XM_011544329.3:c.1827C>G	XP_011542631.1:p.Ala609=
XM_011544330.3:c.1827C>G	XP_011542632.1:p.Ala609=
XM_011544331.3:c.1740C>G	XP_011542633.1:p.Ala580=
XM_011544332.3:c.1386C>G	XP_011542634.1:p.Ala462=
XR_001737552.2:n.1914C>G
XR_949163.3:n.2111C>G
NM_014698.3:c.1827C>G MANE Select	NP_055513.2:p.Ala609=