Canonical Allele Identifier: CA2578086692

Gene: SGCB

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52033380G>A , CM000666.2:g.52033380G>A	GRCh38
NC_000004.11:g.52899546G>A , CM000666.1:g.52899546G>A	GRCh37
NC_000004.10:g.52594303G>A	NCBI36
NG_008891.1:g.9940C>T , LRG_204:g.9940C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.243+51C>T MANE Select	ENSP00000370839.6:n.243+51C>T
ENST00000381431.9:c.243+51C>T	ENSP00000370839.5:n.243+51C>T
ENST00000506357.5:c.229+51C>T
ENST00000514133.1:c.210+51C>T	ENSP00000425818.1:n.210+51C>T
NM_000232.4:c.243+51C>T , LRG_204t1:c.243+51C>T	NP_000223.1:n.243+51C>T
XM_006714049.2:c.-165+51C>T	XP_006714112.1:n.-165+51C>T
XM_011534403.1:c.34-3517C>T	XP_011532705.1:n.34-3517C>T
XM_011534404.1:c.-142+51C>T	XP_011532706.1:n.-142+51C>T
NM_000232.5:c.243+51C>T MANE Select	NP_000223.1:n.243+51C>T