Canonical Allele Identifier: CA1062448235

Gene: SGCB

Linked Data

• dbSNP Id: rs1737298105
• gnomAD v3: 4-52033316-T-G
• gnomAD v4: 4-52033316-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52033316T>G , CM000666.2:g.52033316T>G	GRCh38
NC_000004.11:g.52899482T>G , CM000666.1:g.52899482T>G	GRCh37
NC_000004.10:g.52594239T>G	NCBI36
NG_008891.1:g.10004A>C , LRG_204:g.10004A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.243+115A>C MANE Select	ENSP00000370839.6:n.243+115A>C
ENST00000381431.9:c.243+115A>C	ENSP00000370839.5:n.243+115A>C
ENST00000506357.5:c.229+115A>C
ENST00000514133.1:c.210+115A>C	ENSP00000425818.1:n.210+115A>C
NM_000232.4:c.243+115A>C , LRG_204t1:c.243+115A>C	NP_000223.1:n.243+115A>C
XM_006714049.2:c.-165+115A>C	XP_006714112.1:n.-165+115A>C
XM_011534403.1:c.34-3453A>C	XP_011532705.1:n.34-3453A>C
XM_011534404.1:c.-142+115A>C	XP_011532706.1:n.-142+115A>C
NM_000232.5:c.243+115A>C MANE Select	NP_000223.1:n.243+115A>C