Canonical Allele Identifier: CA2839708158
Gene: B3GALT5 HGNC NCBI
IGSF5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.39649822T>A , CM000683.2:g.39649822T>A GRCh38
NC_000021.8:g.41021749T>A , CM000683.1:g.41021749T>A GRCh37
NC_000021.7:g.39943619T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000343118.6:c.-161+7346T>A (B3GALT5) ENSP00000343318.4:n.-161+7346T>A
ENST00000398714.4:c.-160-9931T>A (B3GALT5) ENSP00000381699.4:n.-160-9931T>A
ENST00000615480.5:c.-160-9931T>A (B3GALT5) ENSP00000480285.1:n.-160-9931T>A
ENST00000682542.1:c.-161+3200T>A (B3GALT5) ENSP00000507453.1:n.-161+3200T>A
ENST00000682818.1:n.333+3200T>A (B3GALT5)
ENST00000683344.1:c.-161+3200T>A (B3GALT5) ENSP00000508165.1:n.-161+3200T>A
ENST00000684187.2:c.-161+3200T>A (B3GALT5) MANE Select ENSP00000506797.1:n.-161+3200T>A
ENST00000684495.1:c.-161+3200T>A (B3GALT5) ENSP00000507285.1:n.-161+3200T>A
ENST00000380620.8:c.-161+3200T>A (B3GALT5) ENSP00000369994.3:n.-161+3200T>A
ENST00000615480.4:c.-160-9931T>A (B3GALT5) ENSP00000480285.1:n.-160-9931T>A
NM_001278650.1:c.-160-9931T>A (B3GALT5) NP_001265579.1:n.-160-9931T>A
XR_937730.1:n.368-2752T>A
XR_937731.1:n.369-1091T>A
XR_937732.1:n.369-2755T>A
NM_001356336.1:c.-161+3200T>A (B3GALT5) NP_001343265.1:n.-161+3200T>A
NM_001356338.1:c.-161+3200T>A (B3GALT5) NP_001343267.1:n.-161+3200T>A
NM_001356339.1:c.-161+7346T>A (B3GALT5) NP_001343268.1:n.-161+7346T>A
XM_011529472.2:c.-1107+17312T>A (IGSF5) XP_011527774.1:n.-1107+17312T>A
NM_001356336.2:c.-161+3200T>A (B3GALT5) MANE Select NP_001343265.1:n.-161+3200T>A
NM_001356338.2:c.-161+3200T>A (B3GALT5) NP_001343267.1:n.-161+3200T>A
NM_001356339.2:c.-161+7346T>A (B3GALT5) NP_001343268.1:n.-161+7346T>A
NM_001278650.2:c.-160-9931T>A (B3GALT5) NP_001265579.1:n.-160-9931T>A