Canonical Allele Identifier: CA356876275
Gene: SGCB HGNC NCBI

Linked Data

gnomAD v4: 4-52028087-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028087C>T , CM000666.2:g.52028087C>T GRCh38
NC_000004.11:g.52894253C>T , CM000666.1:g.52894253C>T GRCh37
NC_000004.10:g.52589010C>T NCBI36
NG_008891.1:g.15233G>A , LRG_204:g.15233G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.634G>A MANE Select ENSP00000370839.6:p.Ala212Thr
ENST00000381431.9:c.634G>A ENSP00000370839.5:p.Ala212Thr
NM_000232.4:c.634G>A , LRG_204t1:c.634G>A NP_000223.1:p.Ala212Thr
XM_006714049.2:c.337G>A XP_006714112.1:p.Ala113Thr
XM_011534403.1:c.424G>A XP_011532705.1:p.Ala142Thr
XM_011534404.1:c.337G>A XP_011532706.1:p.Ala113Thr
NM_000232.5:c.634G>A MANE Select NP_000223.1:p.Ala212Thr