Canonical Allele Identifier: CA356876266
Gene: SGCB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028086G>T , CM000666.2:g.52028086G>T GRCh38
NC_000004.11:g.52894252G>T , CM000666.1:g.52894252G>T GRCh37
NC_000004.10:g.52589009G>T NCBI36
NG_008891.1:g.15234C>A , LRG_204:g.15234C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.635C>A MANE Select ENSP00000370839.6:p.Ala212Asp
ENST00000381431.9:c.635C>A ENSP00000370839.5:p.Ala212Asp
NM_000232.4:c.635C>A , LRG_204t1:c.635C>A NP_000223.1:p.Ala212Asp
XM_006714049.2:c.338C>A XP_006714112.1:p.Ala113Asp
XM_011534403.1:c.425C>A XP_011532705.1:p.Ala142Asp
XM_011534404.1:c.338C>A XP_011532706.1:p.Ala113Asp
NM_000232.5:c.635C>A MANE Select NP_000223.1:p.Ala212Asp