Canonical Allele Identifier: CA356876088
Gene: SGCB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028050G>A , CM000666.2:g.52028050G>A GRCh38
NC_000004.11:g.52894216G>A , CM000666.1:g.52894216G>A GRCh37
NC_000004.10:g.52588973G>A NCBI36
NG_008891.1:g.15270C>T , LRG_204:g.15270C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.671C>T MANE Select ENSP00000370839.6:p.Ala224Val
ENST00000381431.9:c.671C>T ENSP00000370839.5:p.Ala224Val
NM_000232.4:c.671C>T , LRG_204t1:c.671C>T NP_000223.1:p.Ala224Val
XM_006714049.2:c.374C>T XP_006714112.1:p.Ala125Val
XM_011534403.1:c.461C>T XP_011532705.1:p.Ala154Val
XM_011534404.1:c.374C>T XP_011532706.1:p.Ala125Val
NM_000232.5:c.671C>T MANE Select NP_000223.1:p.Ala224Val