LDH info

Canonical Allele Identifier: CA14895119
Gene: B3GALT5 HGNC NCBI
IGSF5 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs10854398

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.39649825T>C , CM000683.2:g.39649825T>C GRCh38
NC_000021.8:g.41021752T>C , CM000683.1:g.41021752T>C GRCh37
NC_000021.7:g.39943622T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_001278650.1:c.-160-9928T>C (B3GALT5) VV NP_001265579.1:p.=
XR_937730.1:n.368-2749T>C
XR_937731.1:n.369-1088T>C
XR_937732.1:n.369-2752T>C
NM_001356336.1:c.-161+3203T>C (B3GALT5) VV NP_001343265.1:p.=
NM_001356338.1:c.-161+3203T>C (B3GALT5) VV NP_001343267.1:p.=
NM_001356339.1:c.-161+7349T>C (B3GALT5) VV NP_001343268.1:p.=
XM_011529472.2:c.-1107+17315T>C (IGSF5) XP_011527774.1:p.=
NM_001356336.2:c.-161+3203T>C (B3GALT5) VV NP_001343265.1:p.=
NM_001356338.2:c.-161+3203T>C (B3GALT5) VV NP_001343267.1:p.=
NM_001356339.2:c.-161+7349T>C (B3GALT5) VV NP_001343268.1:p.=
ENST00000380620.8:c.-161+3203T>C ENSP00000369994.3:p.=
ENST00000615480.4:c.-160-9928T>C ENSP00000480285.1:p.=