Canonical Allele Identifier: CA356876178
Gene: SGCB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028068A>T , CM000666.2:g.52028068A>T GRCh38
NC_000004.11:g.52894234A>T , CM000666.1:g.52894234A>T GRCh37
NC_000004.10:g.52588991A>T NCBI36
NG_008891.1:g.15252T>A , LRG_204:g.15252T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.653T>A MANE Select ENSP00000370839.6:p.Ile218Lys
ENST00000381431.9:c.653T>A ENSP00000370839.5:p.Ile218Lys
NM_000232.4:c.653T>A , LRG_204t1:c.653T>A NP_000223.1:p.Ile218Lys
XM_006714049.2:c.356T>A XP_006714112.1:p.Ile119Lys
XM_011534403.1:c.443T>A XP_011532705.1:p.Ile148Lys
XM_011534404.1:c.356T>A XP_011532706.1:p.Ile119Lys
NM_000232.5:c.653T>A MANE Select NP_000223.1:p.Ile218Lys