Canonical Allele Identifier: CA421635496
Community Standard Title: NM_198053.3(CD247):c.381G>T (p.Gly127=)
Gene: CD247 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.167434032C>A , CM000663.2:g.167434032C>A GRCh38
NC_000001.10:g.167403269C>A , CM000663.1:g.167403269C>A GRCh37
NC_000001.9:g.165669893C>A NCBI36
NG_007384.1:g.89578G>T , LRG_36:g.89578G>T

Transcript Alleles

HGVS Amino-acid Change
NM_198053.3:c.381G>T MANE Select NP_932170.1:p.Gly127=
ENST00000362089.10:c.381G>T MANE Select ENSP00000354782.5:p.Gly127=
NM_000734.3:c.378G>T NP_000725.1:p.Gly126=
NM_000734.4:c.378G>T NP_000725.1:p.Gly126=
NM_001378515.1:c.474G>T NP_001365444.1:p.Gly158=
NM_001378516.1:c.471G>T NP_001365445.1:p.Gly157=
NM_198053.2:c.381G>T , LRG_36t1:c.381G>T NP_932170.1:p.Gly127=
ENST00000362089.9:c.381G>T ENSP00000354782.5:p.Gly127=
ENST00000392122.3:c.378G>T ENSP00000375969.3:p.Gly126=
ENST00000392122.4:c.378G>T ENSP00000375969.3:p.Gly126=
ENST00000470379.1:n.456G>T
ENST00000470379.2:c.93G>T ENSP00000514807.1:p.Gly31=
ENST00000476733.5:n.440G>T
ENST00000476733.6:c.96G>T ENSP00000514806.1:p.Gly32=
ENST00000483825.5:n.1767G>T
ENST00000483825.6:n.1767G>T
ENST00000485089.5:n.35G>T
ENST00000485089.6:c.78G>T ENSP00000514801.1:p.Gly26=
ENST00000700105.1:c.381G>T ENSP00000514800.1:p.Gly127=
ENST00000700106.1:c.405G>T ENSP00000514802.1:p.Gly135=
ENST00000700107.1:c.402G>T ENSP00000514803.1:p.Gly134=
ENST00000700108.1:c.93G>T ENSP00000514804.1:p.Gly31=
ENST00000700109.1:c.96G>T ENSP00000514805.1:p.Gly32=
ENST00000700110.1:n.320G>T
ENST00000700134.1:c.297G>T ENSP00000514822.1:p.Gly99=
ENST00000700135.1:n.869G>T
ENST00000700136.1:n.1584G>T
ENST00000700137.1:n.606G>T
ENST00000700138.1:n.407G>T
ENST00000700139.1:n.503G>T
ENST00000700140.1:n.463G>T
ENST00000700141.1:n.466G>T
ENST00000700155.1:c.96G>T ENSP00000514827.1:p.Gly32=
ENST00000700156.1:c.93G>T ENSP00000514828.1:p.Gly31=
ENST00000700157.1:c.222G>T ENSP00000514829.1:p.Gly74=
ENST00000700158.1:c.93G>T ENSP00000514830.1:p.Gly31=
ENST00000700159.1:c.378G>T ENSP00000514831.1:p.Gly126=
ENST00000700160.1:c.93G>T ENSP00000514832.1:p.Gly31=
ENST00000700163.1:c.78G>T ENSP00000514835.1:p.Gly26=
ENST00000700164.1:n.171G>T
ENST00000700165.1:c.381G>T ENSP00000514836.1:p.Gly127=
ENST00000700166.1:n.374G>T
ENST00000700167.1:c.*28G>T ENSP00000514837.1:n.*28G>T
ENST00000700168.1:n.174G>T
XM_011510144.1:c.405G>T XP_011508446.1:p.Gly135=
XM_011510144.2:c.405G>T XP_011508446.1:p.Gly135=
XM_011510145.1:c.402G>T XP_011508447.1:p.Gly134=
XM_017002800.1:c.474G>T XP_016858289.1:p.Gly158=
XM_017002801.1:c.471G>T XP_016858290.1:p.Gly157=