Canonical Allele Identifier: CA1419008

Gene: TMEM63A

Linked Data

• dbSNP Id: rs142731715
• ExAC: 1:226040445 C / T
• gnomAD v2: 1-226040445-C-T
• gnomAD v3: 1-225852744-C-T
• gnomAD v4: 1-225852744-C-T
• MyVariant Identifiers: chr1:g.226040445C>T (hg19) ; chr1:g.225852744C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225852744C>T , CM000663.2:g.225852744C>T	GRCh38
NC_000001.10:g.226040445C>T , CM000663.1:g.226040445C>T	GRCh37
NC_000001.9:g.224107068C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366835.8:c.1823G>A MANE Select	ENSP00000355800.3:p.Gly608Glu
ENST00000366835.7:c.1823G>A	ENSP00000355800.3:p.Gly608Glu
NM_014698.2:c.1823G>A	NP_055513.2:p.Gly608Glu
XM_006711841.2:c.1292G>A	XP_006711904.1:p.Gly431Glu
XM_011544328.1:c.1823G>A	XP_011542630.1:p.Gly608Glu
XM_011544329.1:c.1823G>A	XP_011542631.1:p.Gly608Glu
XM_011544330.1:c.1823G>A	XP_011542632.1:p.Gly608Glu
XM_011544331.1:c.1736G>A	XP_011542633.1:p.Gly579Glu
XM_011544332.1:c.1382G>A	XP_011542634.1:p.Gly461Glu
XR_949163.1:n.2128G>A
XM_006711841.4:c.1292G>A	XP_006711904.1:p.Gly431Glu
XM_011544328.3:c.1823G>A	XP_011542630.1:p.Gly608Glu
XM_011544329.3:c.1823G>A	XP_011542631.1:p.Gly608Glu
XM_011544330.3:c.1823G>A	XP_011542632.1:p.Gly608Glu
XM_011544331.3:c.1736G>A	XP_011542633.1:p.Gly579Glu
XM_011544332.3:c.1382G>A	XP_011542634.1:p.Gly461Glu
XR_001737552.2:n.1910G>A
XR_949163.3:n.2107G>A
NM_014698.3:c.1823G>A MANE Select	NP_055513.2:p.Gly608Glu