Canonical Allele Identifier: CA1226143

Gene: CD247

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.167518438C>A , CM000663.2:g.167518438C>A	GRCh38
NC_000001.10:g.167487675C>A , CM000663.1:g.167487675C>A	GRCh37
NC_000001.9:g.165754299C>A	NCBI36
NG_007384.1:g.5172G>T , LRG_36:g.5172G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_198053.3:c.28G>T MANE Select	NP_932170.1:p.Ala10Ser
ENST00000362089.10:c.28G>T MANE Select	ENSP00000354782.5:p.Ala10Ser
NM_000734.3:c.28G>T	NP_000725.1:p.Ala10Ser
NM_000734.4:c.28G>T	NP_000725.1:p.Ala10Ser
NM_001378515.1:c.28G>T	NP_001365444.1:p.Ala10Ser
NM_001378516.1:c.28G>T	NP_001365445.1:p.Ala10Ser
NM_198053.2:c.28G>T , LRG_36t1:c.28G>T	NP_932170.1:p.Ala10Ser
ENST00000362089.9:c.28G>T	ENSP00000354782.5:p.Ala10Ser
ENST00000392122.3:c.28G>T	ENSP00000375969.3:p.Ala10Ser
ENST00000392122.4:c.28G>T	ENSP00000375969.3:p.Ala10Ser
ENST00000479979.1:n.173G>T
ENST00000479979.2:n.101G>T
ENST00000483825.5:n.92G>T
ENST00000483825.6:n.92G>T
ENST00000700105.1:c.28G>T	ENSP00000514800.1:p.Ala10Ser
ENST00000700106.1:c.-94G>T	ENSP00000514802.1:n.-94G>T
ENST00000700107.1:c.-94G>T	ENSP00000514803.1:n.-94G>T
ENST00000700108.1:c.-567G>T	ENSP00000514804.1:n.-567G>T
ENST00000700109.1:c.-567G>T	ENSP00000514805.1:n.-567G>T
ENST00000700111.1:n.92G>T
ENST00000700113.1:c.28G>T	ENSP00000514838.1:p.Ala10Ser
ENST00000700134.1:c.28G>T	ENSP00000514822.1:p.Ala10Ser
ENST00000700139.1:n.153G>T
ENST00000700140.1:n.113G>T
ENST00000700141.1:n.113G>T
ENST00000700142.1:c.28G>T	ENSP00000514823.1:p.Ala10Ser
ENST00000700159.1:c.28G>T	ENSP00000514831.1:p.Ala10Ser
ENST00000700160.1:c.-357G>T	ENSP00000514832.1:n.-357G>T
ENST00000700165.1:c.28G>T	ENSP00000514836.1:p.Ala10Ser
ENST00000700167.1:c.28G>T	ENSP00000514837.1:p.Ala10Ser
XM_011510144.1:c.-94G>T	XP_011508446.1:n.-94G>T
XM_011510144.2:c.-94G>T	XP_011508446.1:n.-94G>T
XM_011510145.1:c.-94G>T	XP_011508447.1:n.-94G>T
XM_017002800.1:c.28G>T	XP_016858289.1:p.Ala10Ser
XM_017002801.1:c.28G>T	XP_016858290.1:p.Ala10Ser