Canonical Allele Identifier: CA356875852
Gene: SGCB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028020A>G , CM000666.2:g.52028020A>G GRCh38
NC_000004.11:g.52894186A>G , CM000666.1:g.52894186A>G GRCh37
NC_000004.10:g.52588943A>G NCBI36
NG_008891.1:g.15300T>C , LRG_204:g.15300T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.701T>C MANE Select ENSP00000370839.6:p.Ile234Thr
ENST00000381431.9:c.701T>C ENSP00000370839.5:p.Ile234Thr
NM_000232.4:c.701T>C , LRG_204t1:c.701T>C NP_000223.1:p.Ile234Thr
XM_006714049.2:c.404T>C XP_006714112.1:p.Ile135Thr
XM_011534403.1:c.491T>C XP_011532705.1:p.Ile164Thr
XM_011534404.1:c.404T>C XP_011532706.1:p.Ile135Thr
NM_000232.5:c.701T>C MANE Select NP_000223.1:p.Ile234Thr