Canonical Allele Identifier: CA1225932
Community Standard Title: NM_198053.3(CD247):c.337-5T>C
Gene: CD247 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.167434081A>G , CM000663.2:g.167434081A>G GRCh38
NC_000001.10:g.167403318A>G , CM000663.1:g.167403318A>G GRCh37
NC_000001.9:g.165669942A>G NCBI36
NG_007384.1:g.89529T>C , LRG_36:g.89529T>C

Transcript Alleles

HGVS Amino-acid Change
NM_198053.3:c.337-5T>C MANE Select NP_932170.1:n.337-5T>C
ENST00000362089.10:c.337-5T>C MANE Select ENSP00000354782.5:n.337-5T>C
NM_000734.3:c.334-5T>C NP_000725.1:n.334-5T>C
NM_000734.4:c.334-5T>C NP_000725.1:n.334-5T>C
NM_001378515.1:c.430-5T>C NP_001365444.1:n.430-5T>C
NM_001378516.1:c.427-5T>C NP_001365445.1:n.427-5T>C
NM_198053.2:c.337-5T>C , LRG_36t1:c.337-5T>C NP_932170.1:n.337-5T>C
ENST00000362089.9:c.337-5T>C ENSP00000354782.5:n.337-5T>C
ENST00000392122.3:c.334-5T>C ENSP00000375969.3:n.334-5T>C
ENST00000392122.4:c.334-5T>C ENSP00000375969.3:n.334-5T>C
ENST00000470379.1:n.412-5T>C
ENST00000470379.2:c.49-5T>C ENSP00000514807.1:n.49-5T>C
ENST00000476733.5:n.396-5T>C
ENST00000476733.6:c.52-5T>C ENSP00000514806.1:n.52-5T>C
ENST00000483825.5:n.1718T>C
ENST00000483825.6:n.1718T>C
ENST00000485089.6:c.34-5T>C ENSP00000514801.1:n.34-5T>C
ENST00000700105.1:c.337-5T>C ENSP00000514800.1:n.337-5T>C
ENST00000700106.1:c.361-5T>C ENSP00000514802.1:n.361-5T>C
ENST00000700107.1:c.358-5T>C ENSP00000514803.1:n.358-5T>C
ENST00000700108.1:c.49-5T>C ENSP00000514804.1:n.49-5T>C
ENST00000700109.1:c.52-5T>C ENSP00000514805.1:n.52-5T>C
ENST00000700110.1:n.276-5T>C
ENST00000700134.1:c.253-5T>C ENSP00000514822.1:n.253-5T>C
ENST00000700135.1:n.825-5T>C
ENST00000700136.1:n.1540-5T>C
ENST00000700137.1:n.562-5T>C
ENST00000700138.1:n.363-5T>C
ENST00000700139.1:n.459-5T>C
ENST00000700140.1:n.419-5T>C
ENST00000700141.1:n.422-5T>C
ENST00000700155.1:c.52-5T>C ENSP00000514827.1:n.52-5T>C
ENST00000700156.1:c.49-5T>C ENSP00000514828.1:n.49-5T>C
ENST00000700157.1:c.178-5T>C ENSP00000514829.1:n.178-5T>C
ENST00000700158.1:c.49-5T>C ENSP00000514830.1:n.49-5T>C
ENST00000700159.1:c.334-5T>C ENSP00000514831.1:n.334-5T>C
ENST00000700160.1:c.49-5T>C ENSP00000514832.1:n.49-5T>C
ENST00000700163.1:c.34-5T>C ENSP00000514835.1:n.34-5T>C
ENST00000700164.1:n.127-5T>C
ENST00000700165.1:c.337-5T>C ENSP00000514836.1:n.337-5T>C
ENST00000700166.1:n.330-5T>C
ENST00000700167.1:c.351T>C ENSP00000514837.1:p.Ser117=
ENST00000700168.1:n.130-5T>C
XM_011510144.1:c.361-5T>C XP_011508446.1:n.361-5T>C
XM_011510144.2:c.361-5T>C XP_011508446.1:n.361-5T>C
XM_011510145.1:c.358-5T>C XP_011508447.1:n.358-5T>C
XM_017002800.1:c.430-5T>C XP_016858289.1:n.430-5T>C
XM_017002801.1:c.427-5T>C XP_016858290.1:n.427-5T>C