Canonical Allele Identifier: CA551344162
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs551252676
gnomAD v2: 4-52904446-C-A
gnomAD v4: 4-52038280-C-A
MyVariant Identifiers: chr4:g.52904446C>A (hg19) chr4:g.52038280C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038280C>A , CM000666.2:g.52038280C>A GRCh38
NC_000004.11:g.52904446C>A , CM000666.1:g.52904446C>A GRCh37
NC_000004.10:g.52599203C>A NCBI36
NG_008891.1:g.5040G>T , LRG_204:g.5040G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.-21G>T MANE Select ENSP00000370839.6:n.-21G>T
ENST00000381431.9:c.-21G>T ENSP00000370839.5:n.-21G>T
NM_000232.4:c.-21G>T , LRG_204t1:c.-21G>T NP_000223.1:n.-21G>T
XM_011534403.1:c.-21G>T XP_011532705.1:n.-21G>T
NM_000232.5:c.-21G>T MANE Select NP_000223.1:n.-21G>T
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