Canonical Allele Identifier: CA439274735
Gene: SGCB HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.52899662T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52033496T>G , CM000666.2:g.52033496T>G GRCh38
NC_000004.11:g.52899662T>G , CM000666.1:g.52899662T>G GRCh37
NC_000004.10:g.52594419T>G NCBI36
NG_008891.1:g.9824A>C , LRG_204:g.9824A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.178A>C MANE Select ENSP00000370839.6:p.Arg60=
ENST00000381431.9:c.178A>C ENSP00000370839.5:p.Arg60=
ENST00000506357.5:c.164A>C
ENST00000514133.1:c.145A>C ENSP00000425818.1:p.Arg49=
NM_000232.4:c.178A>C , LRG_204t1:c.178A>C NP_000223.1:p.Arg60=
XM_006714049.2:c.-230A>C XP_006714112.1:n.-230A>C
XM_011534403.1:c.34-3633A>C XP_011532705.1:n.34-3633A>C
XM_011534404.1:c.-207A>C XP_011532706.1:n.-207A>C
NM_000232.5:c.178A>C MANE Select NP_000223.1:p.Arg60=