Canonical Allele Identifier: CA1457431669
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1737298200
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52033322A>T , CM000666.2:g.52033322A>T GRCh38
NC_000004.11:g.52899488A>T , CM000666.1:g.52899488A>T GRCh37
NC_000004.10:g.52594245A>T NCBI36
NG_008891.1:g.9998T>A , LRG_204:g.9998T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.243+109T>A MANE Select ENSP00000370839.6:n.243+109T>A
ENST00000381431.9:c.243+109T>A ENSP00000370839.5:n.243+109T>A
ENST00000506357.5:c.229+109T>A
ENST00000514133.1:c.210+109T>A ENSP00000425818.1:n.210+109T>A
NM_000232.4:c.243+109T>A , LRG_204t1:c.243+109T>A NP_000223.1:n.243+109T>A
XM_006714049.2:c.-165+109T>A XP_006714112.1:n.-165+109T>A
XM_011534403.1:c.34-3459T>A XP_011532705.1:n.34-3459T>A
XM_011534404.1:c.-142+109T>A XP_011532706.1:n.-142+109T>A
NM_000232.5:c.243+109T>A MANE Select NP_000223.1:n.243+109T>A
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