Canonical Allele Identifier: CA1419551

Gene: TMEM63A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225867895G>A , CM000663.2:g.225867895G>A	GRCh38
NC_000001.10:g.226055595G>A , CM000663.1:g.226055595G>A	GRCh37
NC_000001.9:g.224122218G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_014698.3:c.507C>T MANE Select	NP_055513.2:p.Asp169=
ENST00000366835.8:c.507C>T MANE Select	ENSP00000355800.3:p.Asp169=
NM_014698.2:c.507C>T	NP_055513.2:p.Asp169=
ENST00000366835.7:c.507C>T	ENSP00000355800.3:p.Asp169=
XM_006711841.2:c.137C>T	XP_006711904.1:p.Thr46Ile
XM_006711841.4:c.137C>T	XP_006711904.1:p.Thr46Ile
XM_006711842.2:c.507C>T	XP_006711905.1:p.Asp169=
XM_011544328.1:c.507C>T	XP_011542630.1:p.Asp169=
XM_011544328.3:c.507C>T	XP_011542630.1:p.Asp169=
XM_011544329.1:c.507C>T	XP_011542631.1:p.Asp169=
XM_011544329.3:c.507C>T	XP_011542631.1:p.Asp169=
XM_011544330.1:c.507C>T	XP_011542632.1:p.Asp169=
XM_011544330.3:c.507C>T	XP_011542632.1:p.Asp169=
XM_011544331.1:c.507C>T	XP_011542633.1:p.Asp169=
XM_011544331.3:c.507C>T	XP_011542633.1:p.Asp169=
XM_011544332.1:c.118C>T	XP_011542634.1:p.Leu40Phe
XM_011544332.3:c.118C>T	XP_011542634.1:p.Leu40Phe
XR_001737552.2:n.788C>T
XR_949163.1:n.812C>T
XR_949163.3:n.791C>T