Canonical Allele Identifier: CA1457429138
Gene: SGCB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028022G= , CM000666.2:g.52028022G= GRCh38
NC_000004.11:g.52894188G= , CM000666.1:g.52894188G= GRCh37
NC_000004.10:g.52588945G= NCBI36
NG_008891.1:g.15298C= , LRG_204:g.15298C=

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.699C= MANE Select ENSP00000370839.6:p.Phe233=
ENST00000381431.9:c.699C= ENSP00000370839.5:p.Phe233=
NM_000232.4:c.699C= , LRG_204t1:c.699C= NP_000223.1:p.Phe233=
XM_006714049.2:c.402C= XP_006714112.1:p.Phe134=
XM_011534403.1:c.489C= XP_011532705.1:p.Phe163=
XM_011534404.1:c.402C= XP_011532706.1:p.Phe134=
NM_000232.5:c.699C= MANE Select NP_000223.1:p.Phe233=