Canonical Allele Identifier: CA356876327
Gene: SGCB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028098A>T , CM000666.2:g.52028098A>T GRCh38
NC_000004.11:g.52894264A>T , CM000666.1:g.52894264A>T GRCh37
NC_000004.10:g.52589021A>T NCBI36
NG_008891.1:g.15222T>A , LRG_204:g.15222T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.623T>A MANE Select ENSP00000370839.6:p.Ile208Asn
ENST00000381431.9:c.623T>A ENSP00000370839.5:p.Ile208Asn
NM_000232.4:c.623T>A , LRG_204t1:c.623T>A NP_000223.1:p.Ile208Asn
XM_006714049.2:c.326T>A XP_006714112.1:p.Ile109Asn
XM_011534403.1:c.413T>A XP_011532705.1:p.Ile138Asn
XM_011534404.1:c.326T>A XP_011532706.1:p.Ile109Asn
NM_000232.5:c.623T>A MANE Select NP_000223.1:p.Ile208Asn