Canonical Allele Identifier: CA2597764772
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs2109381064
gnomAD v3: 4-52038308-C-A
gnomAD v4: 4-52038308-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038308C>A , CM000666.2:g.52038308C>A GRCh38
NC_000004.11:g.52904474C>A , CM000666.1:g.52904474C>A GRCh37
NC_000004.10:g.52599231C>A NCBI36
NG_008891.1:g.5012G>T , LRG_204:g.5012G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.9:c.-49G>T ENSP00000370839.5:n.-49G>T
NM_000232.4:c.-49G>T , LRG_204t1:c.-49G>T NP_000223.1:n.-49G>T
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