Canonical Allele Identifier: CA2670614675
Gene: SGCB HGNC NCBI

Linked Data

gnomAD v4: 4-52038282-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038282A>G , CM000666.2:g.52038282A>G GRCh38
NC_000004.11:g.52904448A>G , CM000666.1:g.52904448A>G GRCh37
NC_000004.10:g.52599205A>G NCBI36
NG_008891.1:g.5038T>C , LRG_204:g.5038T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.-23T>C MANE Select ENSP00000370839.6:n.-23T>C
ENST00000381431.9:c.-23T>C ENSP00000370839.5:n.-23T>C
NM_000232.4:c.-23T>C , LRG_204t1:c.-23T>C NP_000223.1:n.-23T>C
XM_011534403.1:c.-23T>C XP_011532705.1:n.-23T>C
NM_000232.5:c.-23T>C MANE Select NP_000223.1:n.-23T>C
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