Canonical Allele Identifier: CA2670614110
Gene: SGCB HGNC NCBI

Linked Data

gnomAD v4: 4-52033302-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52033302G>T , CM000666.2:g.52033302G>T GRCh38
NC_000004.11:g.52899468G>T , CM000666.1:g.52899468G>T GRCh37
NC_000004.10:g.52594225G>T NCBI36
NG_008891.1:g.10018C>A , LRG_204:g.10018C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.243+129C>A MANE Select ENSP00000370839.6:n.243+129C>A
ENST00000381431.9:c.243+129C>A ENSP00000370839.5:n.243+129C>A
ENST00000506357.5:c.229+129C>A
ENST00000514133.1:c.210+129C>A ENSP00000425818.1:n.210+129C>A
NM_000232.4:c.243+129C>A , LRG_204t1:c.243+129C>A NP_000223.1:n.243+129C>A
XM_006714049.2:c.-165+129C>A XP_006714112.1:n.-165+129C>A
XM_011534403.1:c.34-3439C>A XP_011532705.1:n.34-3439C>A
XM_011534404.1:c.-142+129C>A XP_011532706.1:n.-142+129C>A
NM_000232.5:c.243+129C>A MANE Select NP_000223.1:n.243+129C>A
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