Canonical Allele Identifier: CA356877323
Gene: SGCB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52029776T>A , CM000666.2:g.52029776T>A GRCh38
NC_000004.11:g.52895942T>A , CM000666.1:g.52895942T>A GRCh37
NC_000004.10:g.52590699T>A NCBI36
NG_008891.1:g.13544A>T , LRG_204:g.13544A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.331A>T MANE Select ENSP00000370839.6:p.Lys111Ter
ENST00000381431.9:c.331A>T ENSP00000370839.5:p.Lys111Ter
ENST00000506357.5:c.414A>T
ENST00000514133.1:c.408A>T ENSP00000425818.1:n.408A>T
NM_000232.4:c.331A>T , LRG_204t1:c.331A>T NP_000223.1:p.Lys111Ter
XM_006714049.2:c.34A>T XP_006714112.1:p.Lys12Ter
XM_011534403.1:c.121A>T XP_011532705.1:p.Lys41Ter
XM_011534404.1:c.34A>T XP_011532706.1:p.Lys12Ter
NM_000232.5:c.331A>T MANE Select NP_000223.1:p.Lys111Ter