Canonical Allele Identifier: CA2761648136
Gene: SGCB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038261T>G , CM000666.2:g.52038261T>G GRCh38
NC_000004.11:g.52904427T>G , CM000666.1:g.52904427T>G GRCh37
NC_000004.10:g.52599184T>G NCBI36
NG_008891.1:g.5059A>C , LRG_204:g.5059A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.-2A>C MANE Select ENSP00000370839.6:n.-2A>C
ENST00000381431.9:c.-2A>C ENSP00000370839.5:n.-2A>C
NM_000232.4:c.-2A>C , LRG_204t1:c.-2A>C NP_000223.1:n.-2A>C
XM_011534403.1:c.-2A>C XP_011532705.1:n.-2A>C
NM_000232.5:c.-2A>C MANE Select NP_000223.1:n.-2A>C