Canonical Allele Identifier: CA356876182
Gene: SGCB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028069T>A , CM000666.2:g.52028069T>A GRCh38
NC_000004.11:g.52894235T>A , CM000666.1:g.52894235T>A GRCh37
NC_000004.10:g.52588992T>A NCBI36
NG_008891.1:g.15251A>T , LRG_204:g.15251A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.652A>T MANE Select ENSP00000370839.6:p.Ile218Leu
ENST00000381431.9:c.652A>T ENSP00000370839.5:p.Ile218Leu
NM_000232.4:c.652A>T , LRG_204t1:c.652A>T NP_000223.1:p.Ile218Leu
XM_006714049.2:c.355A>T XP_006714112.1:p.Ile119Leu
XM_011534403.1:c.442A>T XP_011532705.1:p.Ile148Leu
XM_011534404.1:c.355A>T XP_011532706.1:p.Ile119Leu
NM_000232.5:c.652A>T MANE Select NP_000223.1:p.Ile218Leu