Canonical Allele Identifier: CA356877301

Gene: SGCB

Linked Data

• MyVariant Identifiers: chr4:g.52895933A>C (hg19) ; chr4:g.52029767A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52029767A>C , CM000666.2:g.52029767A>C	GRCh38
NC_000004.11:g.52895933A>C , CM000666.1:g.52895933A>C	GRCh37
NC_000004.10:g.52590690A>C	NCBI36
NG_008891.1:g.13553T>G , LRG_204:g.13553T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.340T>G MANE Select	ENSP00000370839.6:p.Ser114Ala
ENST00000381431.9:c.340T>G	ENSP00000370839.5:p.Ser114Ala
ENST00000506357.5:c.423T>G
ENST00000514133.1:c.417T>G	ENSP00000425818.1:n.417T>G
NM_000232.4:c.340T>G , LRG_204t1:c.340T>G	NP_000223.1:p.Ser114Ala
XM_006714049.2:c.43T>G	XP_006714112.1:p.Ser15Ala
XM_011534403.1:c.130T>G	XP_011532705.1:p.Ser44Ala
XM_011534404.1:c.43T>G	XP_011532706.1:p.Ser15Ala
NM_000232.5:c.340T>G MANE Select	NP_000223.1:p.Ser114Ala