Canonical Allele Identifier: CA2670599132

Gene: SGCB

Linked Data

• gnomAD v4: 4-52029668-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52029668G>A , CM000666.2:g.52029668G>A	GRCh38
NC_000004.11:g.52895834G>A , CM000666.1:g.52895834G>A	GRCh37
NC_000004.10:g.52590591G>A	NCBI36
NG_008891.1:g.13652C>T , LRG_204:g.13652C>T

Transcript Alleles

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