Canonical Allele Identifier: CA356877477

Gene: SGCB

Linked Data

• ClinVar Variation Id: 813991
• ClinVar RCV Id: RCV001004989
• dbSNP Id: rs1018529334
• MyVariant Identifiers: chr4:g.52895995C>G (hg19) ; chr4:g.52029829C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52029829C>G , CM000666.2:g.52029829C>G	GRCh38
NC_000004.11:g.52895995C>G , CM000666.1:g.52895995C>G	GRCh37
NC_000004.10:g.52590752C>G	NCBI36
NG_008891.1:g.13491G>C , LRG_204:g.13491G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.278G>C MANE Select	ENSP00000370839.6:p.Gly93Ala
ENST00000381431.9:c.278G>C	ENSP00000370839.5:p.Gly93Ala
ENST00000506357.5:c.361G>C
ENST00000514133.1:c.355G>C	ENSP00000425818.1:n.355G>C
NM_000232.4:c.278G>C , LRG_204t1:c.278G>C	NP_000223.1:p.Gly93Ala
XM_006714049.2:c.-20G>C	XP_006714112.1:n.-20G>C
XM_011534403.1:c.68G>C	XP_011532705.1:p.Gly23Ala
XM_011534404.1:c.-20G>C	XP_011532706.1:n.-20G>C
NM_000232.5:c.278G>C MANE Select	NP_000223.1:p.Gly93Ala