Canonical Allele Identifier: CA356876206
Gene: SGCB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028073T>G , CM000666.2:g.52028073T>G GRCh38
NC_000004.11:g.52894239T>G , CM000666.1:g.52894239T>G GRCh37
NC_000004.10:g.52588996T>G NCBI36
NG_008891.1:g.15247A>C , LRG_204:g.15247A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.648A>C MANE Select ENSP00000370839.6:p.Leu216Phe
ENST00000381431.9:c.648A>C ENSP00000370839.5:p.Leu216Phe
NM_000232.4:c.648A>C , LRG_204t1:c.648A>C NP_000223.1:p.Leu216Phe
XM_006714049.2:c.351A>C XP_006714112.1:p.Leu117Phe
XM_011534403.1:c.438A>C XP_011532705.1:p.Leu146Phe
XM_011534404.1:c.351A>C XP_011532706.1:p.Leu117Phe
NM_000232.5:c.648A>C MANE Select NP_000223.1:p.Leu216Phe