Canonical Allele Identifier: CA358338955

Gene: GYPB

Linked Data

• dbSNP Id: rs7683365
• gnomAD v3: 4-143999443-G-T
• gnomAD v4: 4-143999443-G-T
• MyVariant Identifiers: chr4:g.144920596G>T (hg19) ; chr4:g.143999443G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000429670.3:c.143C>A	ENSP00000394200.2:p.Thr48Lys
ENST00000502664.6:c.143C>A MANE Select	ENSP00000427690.1:p.Thr48Lys
ENST00000506516.6:c.65C>A	ENSP00000424025.2:p.Thr22Lys
ENST00000638448.1:c.236C>A	ENSP00000492357.1:p.Thr79Lys
ENST00000429670.2:c.143C>A	ENSP00000394200.2:p.Thr48Lys
ENST00000502664.5:c.143C>A	ENSP00000427690.1:p.Thr48Lys
ENST00000503255.5:n.158C>A
ENST00000504951.6:c.*222C>A	ENSP00000421974.2:n.*222C>A
ENST00000505583.5:c.*129C>A	ENSP00000423055.1:n.*129C>A
ENST00000506516.5:c.*141C>A	ENSP00000424025.1:n.*141C>A
ENST00000506679.5:c.*97C>A	ENSP00000422726.1:n.*97C>A
ENST00000507009.5:n.193C>A
ENST00000508618.5:n.201C>A
ENST00000510196.6:n.273C>A
ENST00000511198.5:c.*129C>A	ENSP00000423025.1:n.*129C>A
ENST00000513128.5:c.44C>A	ENSP00000425244.1:p.Thr15Lys
ENST00000513557.5:n.75-1809C>A
ENST00000513677.5:n.81C>A
NM_001304382.1:c.65C>A	NP_001291311.1:p.Thr22Lys
NM_002100.5:c.143C>A	NP_002091.3:p.Thr48Lys
XM_011531903.1:c.143C>A	XP_011530205.1:p.Thr48Lys
XM_011531904.1:c.116C>A	XP_011530206.1:p.Thr39Lys
XM_011531905.1:c.116C>A	XP_011530207.1:p.Thr39Lys
XM_011531903.2:c.143C>A	XP_011530205.1:p.Thr48Lys
XM_011531904.3:c.116C>A	XP_011530206.1:p.Thr39Lys
XM_011531905.2:c.116C>A	XP_011530207.1:p.Thr39Lys
XM_017008137.1:c.65C>A	XP_016863626.1:p.Thr22Lys
NM_002100.6:c.143C>A MANE Select	NP_002091.4:p.Thr48Lys