Canonical Allele Identifier: CA1457431702
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1223771410
gnomAD v4: 4-52033395-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52033395A>G , CM000666.2:g.52033395A>G GRCh38
NC_000004.11:g.52899561A>G , CM000666.1:g.52899561A>G GRCh37
NC_000004.10:g.52594318A>G NCBI36
NG_008891.1:g.9925T>C , LRG_204:g.9925T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.243+36T>C MANE Select ENSP00000370839.6:n.243+36T>C
ENST00000381431.9:c.243+36T>C ENSP00000370839.5:n.243+36T>C
ENST00000506357.5:c.229+36T>C
ENST00000514133.1:c.210+36T>C ENSP00000425818.1:n.210+36T>C
NM_000232.4:c.243+36T>C , LRG_204t1:c.243+36T>C NP_000223.1:n.243+36T>C
XM_006714049.2:c.-165+36T>C XP_006714112.1:n.-165+36T>C
XM_011534403.1:c.34-3532T>C XP_011532705.1:n.34-3532T>C
XM_011534404.1:c.-142+36T>C XP_011532706.1:n.-142+36T>C
NM_000232.5:c.243+36T>C MANE Select NP_000223.1:n.243+36T>C