Canonical Allele Identifier: CA2670599131
Gene: SGCB HGNC NCBI

Linked Data

gnomAD v4: 4-52029666-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52029666G>T , CM000666.2:g.52029666G>T GRCh38
NC_000004.11:g.52895832G>T , CM000666.1:g.52895832G>T GRCh37
NC_000004.10:g.52590589G>T NCBI36
NG_008891.1:g.13654C>A , LRG_204:g.13654C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.429+12C>A MANE Select ENSP00000370839.6:n.429+12C>A
ENST00000381431.9:c.429+12C>A ENSP00000370839.5:n.429+12C>A
ENST00000506357.5:c.512+12C>A
ENST00000514133.1:c.506+12C>A ENSP00000425818.1:n.506+12C>A
NM_000232.4:c.429+12C>A , LRG_204t1:c.429+12C>A NP_000223.1:n.429+12C>A
XM_006714049.2:c.132+12C>A XP_006714112.1:n.132+12C>A
XM_011534403.1:c.219+12C>A XP_011532705.1:n.219+12C>A
XM_011534404.1:c.132+12C>A XP_011532706.1:n.132+12C>A
NM_000232.5:c.429+12C>A MANE Select NP_000223.1:n.429+12C>A
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