Canonical Allele Identifier: CA356876128
Gene: SGCB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028057C>A , CM000666.2:g.52028057C>A GRCh38
NC_000004.11:g.52894223C>A , CM000666.1:g.52894223C>A GRCh37
NC_000004.10:g.52588980C>A NCBI36
NG_008891.1:g.15263G>T , LRG_204:g.15263G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.664G>T MANE Select ENSP00000370839.6:p.Gly222Trp
ENST00000381431.9:c.664G>T ENSP00000370839.5:p.Gly222Trp
NM_000232.4:c.664G>T , LRG_204t1:c.664G>T NP_000223.1:p.Gly222Trp
XM_006714049.2:c.367G>T XP_006714112.1:p.Gly123Trp
XM_011534403.1:c.454G>T XP_011532705.1:p.Gly152Trp
XM_011534404.1:c.367G>T XP_011532706.1:p.Gly123Trp
NM_000232.5:c.664G>T MANE Select NP_000223.1:p.Gly222Trp