Canonical Allele Identifier: CA1225923

Gene: CD247

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.167434023G>A , CM000663.2:g.167434023G>A	GRCh38
NC_000001.10:g.167403260G>A , CM000663.1:g.167403260G>A	GRCh37
NC_000001.9:g.165669884G>A	NCBI36
NG_007384.1:g.89587C>T , LRG_36:g.89587C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_198053.3:c.390C>T MANE Select	NP_932170.1:p.Gly130=
ENST00000362089.10:c.390C>T MANE Select	ENSP00000354782.5:p.Gly130=
NM_000734.3:c.387C>T	NP_000725.1:p.Gly129=
NM_000734.4:c.387C>T	NP_000725.1:p.Gly129=
NM_001378515.1:c.483C>T	NP_001365444.1:p.Gly161=
NM_001378516.1:c.480C>T	NP_001365445.1:p.Gly160=
NM_198053.2:c.390C>T , LRG_36t1:c.390C>T	NP_932170.1:p.Gly130=
ENST00000362089.9:c.390C>T	ENSP00000354782.5:p.Gly130=
ENST00000392122.3:c.387C>T	ENSP00000375969.3:p.Gly129=
ENST00000392122.4:c.387C>T	ENSP00000375969.3:p.Gly129=
ENST00000470379.1:n.465C>T
ENST00000470379.2:c.102C>T	ENSP00000514807.1:p.Gly34=
ENST00000476733.5:n.449C>T
ENST00000476733.6:c.105C>T	ENSP00000514806.1:p.Gly35=
ENST00000483825.5:n.1776C>T
ENST00000483825.6:n.1776C>T
ENST00000485089.5:n.44C>T
ENST00000485089.6:c.87C>T	ENSP00000514801.1:p.Gly29=
ENST00000700105.1:c.390C>T	ENSP00000514800.1:p.Gly130=
ENST00000700106.1:c.414C>T	ENSP00000514802.1:p.Gly138=
ENST00000700107.1:c.411C>T	ENSP00000514803.1:p.Gly137=
ENST00000700108.1:c.102C>T	ENSP00000514804.1:p.Gly34=
ENST00000700109.1:c.105C>T	ENSP00000514805.1:p.Gly35=
ENST00000700110.1:n.329C>T
ENST00000700134.1:c.306C>T	ENSP00000514822.1:p.Gly102=
ENST00000700135.1:n.878C>T
ENST00000700136.1:n.1593C>T
ENST00000700137.1:n.615C>T
ENST00000700138.1:n.416C>T
ENST00000700139.1:n.512C>T
ENST00000700140.1:n.472C>T
ENST00000700141.1:n.475C>T
ENST00000700155.1:c.105C>T	ENSP00000514827.1:p.Gly35=
ENST00000700156.1:c.102C>T	ENSP00000514828.1:p.Gly34=
ENST00000700157.1:c.231C>T	ENSP00000514829.1:p.Gly77=
ENST00000700158.1:c.102C>T	ENSP00000514830.1:p.Gly34=
ENST00000700159.1:c.387C>T	ENSP00000514831.1:p.Gly129=
ENST00000700160.1:c.102C>T	ENSP00000514832.1:p.Gly34=
ENST00000700163.1:c.87C>T	ENSP00000514835.1:p.Gly29=
ENST00000700164.1:n.180C>T
ENST00000700165.1:c.390C>T	ENSP00000514836.1:p.Gly130=
ENST00000700166.1:n.383C>T
ENST00000700167.1:c.*37C>T	ENSP00000514837.1:n.*37C>T
ENST00000700168.1:n.183C>T
XM_011510144.1:c.414C>T	XP_011508446.1:p.Gly138=
XM_011510144.2:c.414C>T	XP_011508446.1:p.Gly138=
XM_011510145.1:c.411C>T	XP_011508447.1:p.Gly137=
XM_017002800.1:c.483C>T	XP_016858289.1:p.Gly161=
XM_017002801.1:c.480C>T	XP_016858290.1:p.Gly160=