Canonical Allele Identifier: CA358338951
Gene: GYPB HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.143999443G>C , CM000666.2:g.143999443G>C GRCh38
NC_000004.11:g.144920596G>C , CM000666.1:g.144920596G>C GRCh37
NC_000004.10:g.145140046G>C NCBI36
NG_007483.2:g.24901C>G
NG_007483.3:g.27419C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000429670.3:c.143C>G ENSP00000394200.2:p.Thr48Arg
ENST00000502664.6:c.143C>G MANE Select ENSP00000427690.1:p.Thr48Arg
ENST00000506516.6:c.65C>G ENSP00000424025.2:p.Thr22Arg
ENST00000638448.1:c.236C>G ENSP00000492357.1:p.Thr79Arg
ENST00000429670.2:c.143C>G ENSP00000394200.2:p.Thr48Arg
ENST00000502664.5:c.143C>G ENSP00000427690.1:p.Thr48Arg
ENST00000503255.5:n.158C>G
ENST00000504951.6:c.*222C>G ENSP00000421974.2:n.*222C>G
ENST00000505583.5:c.*129C>G ENSP00000423055.1:n.*129C>G
ENST00000506516.5:c.*141C>G ENSP00000424025.1:n.*141C>G
ENST00000506679.5:c.*97C>G ENSP00000422726.1:n.*97C>G
ENST00000507009.5:n.193C>G
ENST00000508618.5:n.201C>G
ENST00000510196.6:n.273C>G
ENST00000511198.5:c.*129C>G ENSP00000423025.1:n.*129C>G
ENST00000513128.5:c.44C>G ENSP00000425244.1:p.Thr15Arg
ENST00000513557.5:n.75-1809C>G
ENST00000513677.5:n.81C>G
NM_001304382.1:c.65C>G NP_001291311.1:p.Thr22Arg
NM_002100.5:c.143C>G NP_002091.3:p.Thr48Arg
XM_011531903.1:c.143C>G XP_011530205.1:p.Thr48Arg
XM_011531904.1:c.116C>G XP_011530206.1:p.Thr39Arg
XM_011531905.1:c.116C>G XP_011530207.1:p.Thr39Arg
XM_011531903.2:c.143C>G XP_011530205.1:p.Thr48Arg
XM_011531904.3:c.116C>G XP_011530206.1:p.Thr39Arg
XM_011531905.2:c.116C>G XP_011530207.1:p.Thr39Arg
XM_017008137.1:c.65C>G XP_016863626.1:p.Thr22Arg
NM_002100.6:c.143C>G MANE Select NP_002091.4:p.Thr48Arg