Canonical Allele Identifier: CA374424804

Gene: TMEM245

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.109057269C>A , CM000671.2:g.109057269C>A	GRCh38
NC_000009.11:g.111819549C>A , CM000671.1:g.111819549C>A	GRCh37
NC_000009.10:g.110859370C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_032012.4:c.1776G>T MANE Select	NP_114401.2:p.Gln592His
ENST00000374586.8:c.1776G>T MANE Select	ENSP00000363714.3:p.Gln592His
NM_032012.3:c.1776G>T	NP_114401.2:p.Gln592His
ENST00000374586.7:c.1776G>T	ENSP00000363714.3:p.Gln592His
ENST00000413712.6:c.553G>T
ENST00000413712.7:c.1752G>T	ENSP00000394798.3:p.Gln584His
ENST00000491854.1:c.*348G>T	ENSP00000417842.1:n.*348G>T
XM_011518446.1:c.1773G>T	XP_011516748.1:p.Gln591His
XM_011518446.2:c.1773G>T	XP_011516748.1:p.Gln591His
XM_011518447.1:c.1752G>T	XP_011516749.1:p.Gln584His
XM_011518448.1:c.1671G>T	XP_011516750.1:p.Gln557His
XM_011518449.1:c.1659G>T	XP_011516751.1:p.Gln553His
XM_011518449.2:c.1659G>T	XP_011516751.1:p.Gln553His
XM_011518450.1:c.1656G>T	XP_011516752.1:p.Gln552His
XM_011518451.1:c.1647G>T	XP_011516753.1:p.Gln549His
XM_011518452.1:c.1542G>T	XP_011516754.1:p.Gln514His
XM_011518452.2:c.1542G>T	XP_011516754.1:p.Gln514His
XM_017014571.1:c.1749G>T	XP_016870060.1:p.Gln583His
XM_017014572.1:c.1518G>T	XP_016870061.1:p.Gln506His
XR_930240.1:n.1392-17024C>A