Canonical Allele Identifier: CA526958329
Community Standard Title: NM_198053.3(CD247):c.219+9G>A
Gene: CD247 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.167439335C>T , CM000663.2:g.167439335C>T GRCh38
NC_000001.10:g.167408572C>T , CM000663.1:g.167408572C>T GRCh37
NC_000001.9:g.165675196C>T NCBI36
NG_007384.1:g.84275G>A , LRG_36:g.84275G>A

Transcript Alleles

HGVS Amino-acid Change
NM_198053.3:c.219+9G>A MANE Select NP_932170.1:n.219+9G>A
ENST00000362089.10:c.219+9G>A MANE Select ENSP00000354782.5:n.219+9G>A
NM_000734.3:c.219+9G>A NP_000725.1:n.219+9G>A
NM_000734.4:c.219+9G>A NP_000725.1:n.219+9G>A
NM_001378515.1:c.312+9G>A NP_001365444.1:n.312+9G>A
NM_001378516.1:c.312+9G>A NP_001365445.1:n.312+9G>A
NM_198053.2:c.219+9G>A , LRG_36t1:c.219+9G>A NP_932170.1:n.219+9G>A
ENST00000362089.9:c.219+9G>A ENSP00000354782.5:n.219+9G>A
ENST00000392122.3:c.219+9G>A ENSP00000375969.3:n.219+9G>A
ENST00000392122.4:c.219+9G>A ENSP00000375969.3:n.219+9G>A
ENST00000470379.1:n.297+9G>A
ENST00000470379.2:c.-67+9G>A ENSP00000514807.1:n.-67+9G>A
ENST00000476733.5:n.278+9G>A
ENST00000476733.6:c.-67+9G>A ENSP00000514806.1:n.-67+9G>A
ENST00000483825.5:n.283+9G>A
ENST00000483825.6:n.283+9G>A
ENST00000700105.1:c.219+9G>A ENSP00000514800.1:n.219+9G>A
ENST00000700106.1:c.243+9G>A ENSP00000514802.1:n.243+9G>A
ENST00000700107.1:c.243+9G>A ENSP00000514803.1:n.243+9G>A
ENST00000700108.1:c.-67+9G>A ENSP00000514804.1:n.-67+9G>A
ENST00000700109.1:c.-67+9G>A ENSP00000514805.1:n.-67+9G>A
ENST00000700110.1:n.6G>A
ENST00000700111.1:n.292G>A
ENST00000700113.1:c.*500+9G>A ENSP00000514838.1:n.*500+9G>A
ENST00000700134.1:c.219+9G>A ENSP00000514822.1:n.219+9G>A
ENST00000700135.1:n.710+9G>A
ENST00000700137.1:n.444+9G>A
ENST00000700138.1:n.245+9G>A
ENST00000700139.1:n.344+9G>A
ENST00000700140.1:n.304+9G>A
ENST00000700141.1:n.304+9G>A
ENST00000700142.1:c.219+9G>A ENSP00000514823.1:n.219+9G>A
ENST00000700143.1:n.192G>A
ENST00000700155.1:c.-67+9G>A ENSP00000514827.1:n.-67+9G>A
ENST00000700156.1:c.-67+9G>A ENSP00000514828.1:n.-67+9G>A
ENST00000700157.1:c.63+9G>A ENSP00000514829.1:n.63+9G>A
ENST00000700158.1:c.-67+9G>A ENSP00000514830.1:n.-67+9G>A
ENST00000700159.1:c.219+9G>A ENSP00000514831.1:n.219+9G>A
ENST00000700160.1:c.-67+9G>A ENSP00000514832.1:n.-67+9G>A
ENST00000700161.1:c.-67+9G>A ENSP00000514833.1:n.-67+9G>A
ENST00000700165.1:c.219+9G>A ENSP00000514836.1:n.219+9G>A
ENST00000700166.1:n.215+9G>A
ENST00000700167.1:c.219+9G>A ENSP00000514837.1:n.219+9G>A
XM_011510144.1:c.243+9G>A XP_011508446.1:n.243+9G>A
XM_011510144.2:c.243+9G>A XP_011508446.1:n.243+9G>A
XM_011510145.1:c.243+9G>A XP_011508447.1:n.243+9G>A
XM_017002800.1:c.312+9G>A XP_016858289.1:n.312+9G>A
XM_017002801.1:c.312+9G>A XP_016858290.1:n.312+9G>A