Canonical Allele Identifier: CA356877551
Gene: SGCB HGNC NCBI

Linked Data

gnomAD v4: 4-52029853-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52029853A>T , CM000666.2:g.52029853A>T GRCh38
NC_000004.11:g.52896019A>T , CM000666.1:g.52896019A>T GRCh37
NC_000004.10:g.52590776A>T NCBI36
NG_008891.1:g.13467T>A , LRG_204:g.13467T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.254T>A MANE Select ENSP00000370839.6:p.Val85Asp
ENST00000381431.9:c.254T>A ENSP00000370839.5:p.Val85Asp
ENST00000506357.5:c.337T>A
ENST00000514133.1:c.331T>A ENSP00000425818.1:n.331T>A
NM_000232.4:c.254T>A , LRG_204t1:c.254T>A NP_000223.1:p.Val85Asp
XM_006714049.2:c.-44T>A XP_006714112.1:n.-44T>A
XM_011534403.1:c.44T>A XP_011532705.1:p.Val15Asp
XM_011534404.1:c.-44T>A XP_011532706.1:n.-44T>A
NM_000232.5:c.254T>A MANE Select NP_000223.1:p.Val85Asp