Canonical Allele Identifier: CA356877117
Gene: SGCB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52029677C>G , CM000666.2:g.52029677C>G GRCh38
NC_000004.11:g.52895843C>G , CM000666.1:g.52895843C>G GRCh37
NC_000004.10:g.52590600C>G NCBI36
NG_008891.1:g.13643G>C , LRG_204:g.13643G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.429+1G>C MANE Select ENSP00000370839.6:n.429+1G>C
ENST00000381431.9:c.429+1G>C ENSP00000370839.5:n.429+1G>C
ENST00000506357.5:c.512+1G>C
ENST00000514133.1:c.506+1G>C ENSP00000425818.1:n.506+1G>C
NM_000232.4:c.429+1G>C , LRG_204t1:c.429+1G>C NP_000223.1:n.429+1G>C
XM_006714049.2:c.132+1G>C XP_006714112.1:n.132+1G>C
XM_011534403.1:c.219+1G>C XP_011532705.1:n.219+1G>C
XM_011534404.1:c.132+1G>C XP_011532706.1:n.132+1G>C
NM_000232.5:c.429+1G>C MANE Select NP_000223.1:n.429+1G>C