Canonical Allele Identifier: CA421682227
Community Standard Title: NM_198053.3(CD247):c.24C>T (p.Thr8=)
Gene: CD247 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.167518442G>A , CM000663.2:g.167518442G>A GRCh38
NC_000001.10:g.167487679G>A , CM000663.1:g.167487679G>A GRCh37
NC_000001.9:g.165754303G>A NCBI36
NG_007384.1:g.5168C>T , LRG_36:g.5168C>T

Transcript Alleles

HGVS Amino-acid Change
NM_198053.3:c.24C>T MANE Select NP_932170.1:p.Thr8=
ENST00000362089.10:c.24C>T MANE Select ENSP00000354782.5:p.Thr8=
NM_000734.3:c.24C>T NP_000725.1:p.Thr8=
NM_000734.4:c.24C>T NP_000725.1:p.Thr8=
NM_001378515.1:c.24C>T NP_001365444.1:p.Thr8=
NM_001378516.1:c.24C>T NP_001365445.1:p.Thr8=
NM_198053.2:c.24C>T , LRG_36t1:c.24C>T NP_932170.1:p.Thr8=
ENST00000362089.9:c.24C>T ENSP00000354782.5:p.Thr8=
ENST00000392122.3:c.24C>T ENSP00000375969.3:p.Thr8=
ENST00000392122.4:c.24C>T ENSP00000375969.3:p.Thr8=
ENST00000479979.1:n.169C>T
ENST00000479979.2:n.97C>T
ENST00000483825.5:n.88C>T
ENST00000483825.6:n.88C>T
ENST00000700105.1:c.24C>T ENSP00000514800.1:p.Thr8=
ENST00000700106.1:c.-98C>T ENSP00000514802.1:n.-98C>T
ENST00000700107.1:c.-98C>T ENSP00000514803.1:n.-98C>T
ENST00000700108.1:c.-571C>T ENSP00000514804.1:n.-571C>T
ENST00000700109.1:c.-571C>T ENSP00000514805.1:n.-571C>T
ENST00000700111.1:n.88C>T
ENST00000700113.1:c.24C>T ENSP00000514838.1:p.Thr8=
ENST00000700134.1:c.24C>T ENSP00000514822.1:p.Thr8=
ENST00000700139.1:n.149C>T
ENST00000700140.1:n.109C>T
ENST00000700141.1:n.109C>T
ENST00000700142.1:c.24C>T ENSP00000514823.1:p.Thr8=
ENST00000700159.1:c.24C>T ENSP00000514831.1:p.Thr8=
ENST00000700160.1:c.-361C>T ENSP00000514832.1:n.-361C>T
ENST00000700165.1:c.24C>T ENSP00000514836.1:p.Thr8=
ENST00000700167.1:c.24C>T ENSP00000514837.1:p.Thr8=
XM_011510144.1:c.-98C>T XP_011508446.1:n.-98C>T
XM_011510144.2:c.-98C>T XP_011508446.1:n.-98C>T
XM_011510145.1:c.-98C>T XP_011508447.1:n.-98C>T
XM_017002800.1:c.24C>T XP_016858289.1:p.Thr8=
XM_017002801.1:c.24C>T XP_016858290.1:p.Thr8=