Canonical Allele Identifier: CA439274826
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 1142226
ClinVar RCV Id: RCV001479902
dbSNP Id: rs2109376069
gnomAD v4: 4-52033599-C-T
MyVariant Identifiers: chr4:g.52899765C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52033599C>T , CM000666.2:g.52033599C>T GRCh38
NC_000004.11:g.52899765C>T , CM000666.1:g.52899765C>T GRCh37
NC_000004.10:g.52594522C>T NCBI36
NG_008891.1:g.9721G>A , LRG_204:g.9721G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.75G>A MANE Select ENSP00000370839.6:p.Lys25=
ENST00000381431.9:c.75G>A ENSP00000370839.5:p.Lys25=
ENST00000506357.5:c.61G>A
ENST00000514133.1:c.42G>A ENSP00000425818.1:p.Lys14=
NM_000232.4:c.75G>A , LRG_204t1:c.75G>A NP_000223.1:p.Lys25=
XM_011534403.1:c.34-3736G>A XP_011532705.1:n.34-3736G>A
NM_000232.5:c.75G>A MANE Select NP_000223.1:p.Lys25=
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Search 100 bp 3'