Canonical Allele Identifier: CA345012596

Gene: TMEM63A

Linked Data

• MyVariant Identifiers: chr1:g.226040418A>T (hg19) ; chr1:g.225852717A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225852717A>T , CM000663.2:g.225852717A>T	GRCh38
NC_000001.10:g.226040418A>T , CM000663.1:g.226040418A>T	GRCh37
NC_000001.9:g.224107041A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366835.8:c.1850T>A MANE Select	ENSP00000355800.3:p.Val617Asp
ENST00000366835.7:c.1850T>A	ENSP00000355800.3:p.Val617Asp
NM_014698.2:c.1850T>A	NP_055513.2:p.Val617Asp
XM_006711841.2:c.1319T>A	XP_006711904.1:p.Val440Asp
XM_011544328.1:c.1850T>A	XP_011542630.1:p.Val617Asp
XM_011544329.1:c.1850T>A	XP_011542631.1:p.Val617Asp
XM_011544330.1:c.1850T>A	XP_011542632.1:p.Val617Asp
XM_011544331.1:c.1763T>A	XP_011542633.1:p.Val588Asp
XM_011544332.1:c.1409T>A	XP_011542634.1:p.Val470Asp
XR_949163.1:n.2155T>A
XM_006711841.4:c.1319T>A	XP_006711904.1:p.Val440Asp
XM_011544328.3:c.1850T>A	XP_011542630.1:p.Val617Asp
XM_011544329.3:c.1850T>A	XP_011542631.1:p.Val617Asp
XM_011544330.3:c.1850T>A	XP_011542632.1:p.Val617Asp
XM_011544331.3:c.1763T>A	XP_011542633.1:p.Val588Asp
XM_011544332.3:c.1409T>A	XP_011542634.1:p.Val470Asp
XR_001737552.2:n.1937T>A
XR_949163.3:n.2134T>A
NM_014698.3:c.1850T>A MANE Select	NP_055513.2:p.Val617Asp