Canonical Allele Identifier: CA356878022
Gene: SGCB HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.52899715G>C (hg19) chr4:g.52033549G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52033549G>C , CM000666.2:g.52033549G>C GRCh38
NC_000004.11:g.52899715G>C , CM000666.1:g.52899715G>C GRCh37
NC_000004.10:g.52594472G>C NCBI36
NG_008891.1:g.9771C>G , LRG_204:g.9771C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.125C>G MANE Select ENSP00000370839.6:p.Ala42Gly
ENST00000381431.9:c.125C>G ENSP00000370839.5:p.Ala42Gly
ENST00000506357.5:c.111C>G
ENST00000514133.1:c.92C>G ENSP00000425818.1:p.Ala31Gly
NM_000232.4:c.125C>G , LRG_204t1:c.125C>G NP_000223.1:p.Ala42Gly
XM_011534403.1:c.34-3686C>G XP_011532705.1:n.34-3686C>G
NM_000232.5:c.125C>G MANE Select NP_000223.1:p.Ala42Gly
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