Canonical Allele Identifier: CA2670598607
Gene: SGCB HGNC NCBI

Linked Data

gnomAD v4: 4-52027912-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52027912G>C , CM000666.2:g.52027912G>C GRCh38
NC_000004.11:g.52894078G>C , CM000666.1:g.52894078G>C GRCh37
NC_000004.10:g.52588835G>C NCBI36
NG_008891.1:g.15408C>G , LRG_204:g.15408C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.753+56C>G MANE Select ENSP00000370839.6:n.753+56C>G
ENST00000381431.9:c.753+56C>G ENSP00000370839.5:n.753+56C>G
NM_000232.4:c.753+56C>G , LRG_204t1:c.753+56C>G NP_000223.1:n.753+56C>G
XM_006714049.2:c.456+56C>G XP_006714112.1:n.456+56C>G
XM_011534403.1:c.543+56C>G XP_011532705.1:n.543+56C>G
XM_011534404.1:c.456+56C>G XP_011532706.1:n.456+56C>G
NM_000232.5:c.753+56C>G MANE Select NP_000223.1:n.753+56C>G
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