Canonical Allele Identifier: CA1062448272
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1737299055
gnomAD v3: 4-52033371-T-C
gnomAD v4: 4-52033371-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52033371T>C , CM000666.2:g.52033371T>C GRCh38
NC_000004.11:g.52899537T>C , CM000666.1:g.52899537T>C GRCh37
NC_000004.10:g.52594294T>C NCBI36
NG_008891.1:g.9949A>G , LRG_204:g.9949A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.243+60A>G MANE Select ENSP00000370839.6:n.243+60A>G
ENST00000381431.9:c.243+60A>G ENSP00000370839.5:n.243+60A>G
ENST00000506357.5:c.229+60A>G
ENST00000514133.1:c.210+60A>G ENSP00000425818.1:n.210+60A>G
NM_000232.4:c.243+60A>G , LRG_204t1:c.243+60A>G NP_000223.1:n.243+60A>G
XM_006714049.2:c.-165+60A>G XP_006714112.1:n.-165+60A>G
XM_011534403.1:c.34-3508A>G XP_011532705.1:n.34-3508A>G
XM_011534404.1:c.-142+60A>G XP_011532706.1:n.-142+60A>G
NM_000232.5:c.243+60A>G MANE Select NP_000223.1:n.243+60A>G
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