Canonical Allele Identifier: CA1062448295
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1737300148
gnomAD v3: 4-52033399-C-A
gnomAD v4: 4-52033399-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52033399C>A , CM000666.2:g.52033399C>A GRCh38
NC_000004.11:g.52899565C>A , CM000666.1:g.52899565C>A GRCh37
NC_000004.10:g.52594322C>A NCBI36
NG_008891.1:g.9921G>T , LRG_204:g.9921G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.243+32G>T MANE Select ENSP00000370839.6:n.243+32G>T
ENST00000381431.9:c.243+32G>T ENSP00000370839.5:n.243+32G>T
ENST00000506357.5:c.229+32G>T
ENST00000514133.1:c.210+32G>T ENSP00000425818.1:n.210+32G>T
NM_000232.4:c.243+32G>T , LRG_204t1:c.243+32G>T NP_000223.1:n.243+32G>T
XM_006714049.2:c.-165+32G>T XP_006714112.1:n.-165+32G>T
XM_011534403.1:c.34-3536G>T XP_011532705.1:n.34-3536G>T
XM_011534404.1:c.-142+32G>T XP_011532706.1:n.-142+32G>T
NM_000232.5:c.243+32G>T MANE Select NP_000223.1:n.243+32G>T