Canonical Allele Identifier: CA345012611

Gene: TMEM63A

Linked Data

• MyVariant Identifiers: chr1:g.226040421C>G (hg19) ; chr1:g.225852720C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225852720C>G , CM000663.2:g.225852720C>G	GRCh38
NC_000001.10:g.226040421C>G , CM000663.1:g.226040421C>G	GRCh37
NC_000001.9:g.224107044C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366835.8:c.1847G>C MANE Select	ENSP00000355800.3:p.Cys616Ser
ENST00000366835.7:c.1847G>C	ENSP00000355800.3:p.Cys616Ser
NM_014698.2:c.1847G>C	NP_055513.2:p.Cys616Ser
XM_006711841.2:c.1316G>C	XP_006711904.1:p.Cys439Ser
XM_011544328.1:c.1847G>C	XP_011542630.1:p.Cys616Ser
XM_011544329.1:c.1847G>C	XP_011542631.1:p.Cys616Ser
XM_011544330.1:c.1847G>C	XP_011542632.1:p.Cys616Ser
XM_011544331.1:c.1760G>C	XP_011542633.1:p.Cys587Ser
XM_011544332.1:c.1406G>C	XP_011542634.1:p.Cys469Ser
XR_949163.1:n.2152G>C
XM_006711841.4:c.1316G>C	XP_006711904.1:p.Cys439Ser
XM_011544328.3:c.1847G>C	XP_011542630.1:p.Cys616Ser
XM_011544329.3:c.1847G>C	XP_011542631.1:p.Cys616Ser
XM_011544330.3:c.1847G>C	XP_011542632.1:p.Cys616Ser
XM_011544331.3:c.1760G>C	XP_011542633.1:p.Cys587Ser
XM_011544332.3:c.1406G>C	XP_011542634.1:p.Cys469Ser
XR_001737552.2:n.1934G>C
XR_949163.3:n.2131G>C
NM_014698.3:c.1847G>C MANE Select	NP_055513.2:p.Cys616Ser