Canonical Allele Identifier: CA439274734
Gene: SGCB HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.52899660T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52033494T>C , CM000666.2:g.52033494T>C GRCh38
NC_000004.11:g.52899660T>C , CM000666.1:g.52899660T>C GRCh37
NC_000004.10:g.52594417T>C NCBI36
NG_008891.1:g.9826A>G , LRG_204:g.9826A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.180A>G MANE Select ENSP00000370839.6:p.Arg60=
ENST00000381431.9:c.180A>G ENSP00000370839.5:p.Arg60=
ENST00000506357.5:c.166A>G
ENST00000514133.1:c.147A>G ENSP00000425818.1:p.Arg49=
NM_000232.4:c.180A>G , LRG_204t1:c.180A>G NP_000223.1:p.Arg60=
XM_006714049.2:c.-228A>G XP_006714112.1:n.-228A>G
XM_011534403.1:c.34-3631A>G XP_011532705.1:n.34-3631A>G
XM_011534404.1:c.-205A>G XP_011532706.1:n.-205A>G
NM_000232.5:c.180A>G MANE Select NP_000223.1:p.Arg60=