Canonical Allele Identifier: CA2670614138

Gene: SGCB

Linked Data

• gnomAD v4: 4-52033362-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52033362T>C , CM000666.2:g.52033362T>C	GRCh38
NC_000004.11:g.52899528T>C , CM000666.1:g.52899528T>C	GRCh37
NC_000004.10:g.52594285T>C	NCBI36
NG_008891.1:g.9958A>G , LRG_204:g.9958A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.243+69A>G MANE Select	ENSP00000370839.6:n.243+69A>G
ENST00000381431.9:c.243+69A>G	ENSP00000370839.5:n.243+69A>G
ENST00000506357.5:c.229+69A>G
ENST00000514133.1:c.210+69A>G	ENSP00000425818.1:n.210+69A>G
NM_000232.4:c.243+69A>G , LRG_204t1:c.243+69A>G	NP_000223.1:n.243+69A>G
XM_006714049.2:c.-165+69A>G	XP_006714112.1:n.-165+69A>G
XM_011534403.1:c.34-3499A>G	XP_011532705.1:n.34-3499A>G
XM_011534404.1:c.-142+69A>G	XP_011532706.1:n.-142+69A>G
NM_000232.5:c.243+69A>G MANE Select	NP_000223.1:n.243+69A>G