Canonical Allele Identifier: CA356875742
Gene: SGCB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52027973T>C , CM000666.2:g.52027973T>C GRCh38
NC_000004.11:g.52894139T>C , CM000666.1:g.52894139T>C GRCh37
NC_000004.10:g.52588896T>C NCBI36
NG_008891.1:g.15347A>G , LRG_204:g.15347A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.748A>G MANE Select ENSP00000370839.6:p.Lys250Glu
ENST00000381431.9:c.748A>G ENSP00000370839.5:p.Lys250Glu
NM_000232.4:c.748A>G , LRG_204t1:c.748A>G NP_000223.1:p.Lys250Glu
XM_006714049.2:c.451A>G XP_006714112.1:p.Lys151Glu
XM_011534403.1:c.538A>G XP_011532705.1:p.Lys180Glu
XM_011534404.1:c.451A>G XP_011532706.1:p.Lys151Glu
NM_000232.5:c.748A>G MANE Select NP_000223.1:p.Lys250Glu