Canonical Allele Identifier: CA345012423

Gene: TMEM63A

Linked Data

• gnomAD v4: 1-225852675-A-G
• MyVariant Identifiers: chr1:g.226040376A>G (hg19) ; chr1:g.225852675A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225852675A>G , CM000663.2:g.225852675A>G	GRCh38
NC_000001.10:g.226040376A>G , CM000663.1:g.226040376A>G	GRCh37
NC_000001.9:g.224106999A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366835.8:c.1892T>C MANE Select	ENSP00000355800.3:p.Ile631Thr
ENST00000366835.7:c.1892T>C	ENSP00000355800.3:p.Ile631Thr
NM_014698.2:c.1892T>C	NP_055513.2:p.Ile631Thr
XM_006711841.2:c.1361T>C	XP_006711904.1:p.Ile454Thr
XM_011544328.1:c.1892T>C	XP_011542630.1:p.Ile631Thr
XM_011544329.1:c.1892T>C	XP_011542631.1:p.Ile631Thr
XM_011544330.1:c.1892T>C	XP_011542632.1:p.Ile631Thr
XM_011544331.1:c.1805T>C	XP_011542633.1:p.Ile602Thr
XM_011544332.1:c.1451T>C	XP_011542634.1:p.Ile484Thr
XR_949163.1:n.2197T>C
XM_006711841.4:c.1361T>C	XP_006711904.1:p.Ile454Thr
XM_011544328.3:c.1892T>C	XP_011542630.1:p.Ile631Thr
XM_011544329.3:c.1892T>C	XP_011542631.1:p.Ile631Thr
XM_011544330.3:c.1892T>C	XP_011542632.1:p.Ile631Thr
XM_011544331.3:c.1805T>C	XP_011542633.1:p.Ile602Thr
XM_011544332.3:c.1451T>C	XP_011542634.1:p.Ile484Thr
XR_001737552.2:n.1979T>C
XR_949163.3:n.2176T>C
NM_014698.3:c.1892T>C MANE Select	NP_055513.2:p.Ile631Thr