Canonical Allele Identifier: CA439274787
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 2831263
ClinVar RCV Id: RCV003620997
MyVariant Identifiers: chr4:g.52899714A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52033548A>G , CM000666.2:g.52033548A>G GRCh38
NC_000004.11:g.52899714A>G , CM000666.1:g.52899714A>G GRCh37
NC_000004.10:g.52594471A>G NCBI36
NG_008891.1:g.9772T>C , LRG_204:g.9772T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.126T>C MANE Select ENSP00000370839.6:p.Ala42=
ENST00000381431.9:c.126T>C ENSP00000370839.5:p.Ala42=
ENST00000506357.5:c.112T>C
ENST00000514133.1:c.93T>C ENSP00000425818.1:p.Ala31=
NM_000232.4:c.126T>C , LRG_204t1:c.126T>C NP_000223.1:p.Ala42=
XM_011534403.1:c.34-3685T>C XP_011532705.1:n.34-3685T>C
NM_000232.5:c.126T>C MANE Select NP_000223.1:p.Ala42=
Search 100 bp 5'
Search 100 bp 3'