Canonical Allele Identifier: CA345012626

Gene: TMEM63A

Linked Data

• MyVariant Identifiers: chr1:g.226040426C>A (hg19) ; chr1:g.225852725C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225852725C>A , CM000663.2:g.225852725C>A	GRCh38
NC_000001.10:g.226040426C>A , CM000663.1:g.226040426C>A	GRCh37
NC_000001.9:g.224107049C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366835.8:c.1842G>T MANE Select	ENSP00000355800.3:p.Met614Ile
ENST00000366835.7:c.1842G>T	ENSP00000355800.3:p.Met614Ile
NM_014698.2:c.1842G>T	NP_055513.2:p.Met614Ile
XM_006711841.2:c.1311G>T	XP_006711904.1:p.Met437Ile
XM_011544328.1:c.1842G>T	XP_011542630.1:p.Met614Ile
XM_011544329.1:c.1842G>T	XP_011542631.1:p.Met614Ile
XM_011544330.1:c.1842G>T	XP_011542632.1:p.Met614Ile
XM_011544331.1:c.1755G>T	XP_011542633.1:p.Met585Ile
XM_011544332.1:c.1401G>T	XP_011542634.1:p.Met467Ile
XR_949163.1:n.2147G>T
XM_006711841.4:c.1311G>T	XP_006711904.1:p.Met437Ile
XM_011544328.3:c.1842G>T	XP_011542630.1:p.Met614Ile
XM_011544329.3:c.1842G>T	XP_011542631.1:p.Met614Ile
XM_011544330.3:c.1842G>T	XP_011542632.1:p.Met614Ile
XM_011544331.3:c.1755G>T	XP_011542633.1:p.Met585Ile
XM_011544332.3:c.1401G>T	XP_011542634.1:p.Met467Ile
XR_001737552.2:n.1929G>T
XR_949163.3:n.2126G>T
NM_014698.3:c.1842G>T MANE Select	NP_055513.2:p.Met614Ile