Canonical Allele Identifier: CA356877907

Gene: SGCB

Linked Data

• MyVariant Identifiers: chr4:g.52899660T>G (hg19) ; chr4:g.52033494T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52033494T>G , CM000666.2:g.52033494T>G	GRCh38
NC_000004.11:g.52899660T>G , CM000666.1:g.52899660T>G	GRCh37
NC_000004.10:g.52594417T>G	NCBI36
NG_008891.1:g.9826A>C , LRG_204:g.9826A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.180A>C MANE Select	ENSP00000370839.6:p.Arg60Ser
ENST00000381431.9:c.180A>C	ENSP00000370839.5:p.Arg60Ser
ENST00000506357.5:c.166A>C
ENST00000514133.1:c.147A>C	ENSP00000425818.1:p.Arg49Ser
NM_000232.4:c.180A>C , LRG_204t1:c.180A>C	NP_000223.1:p.Arg60Ser
XM_006714049.2:c.-228A>C	XP_006714112.1:n.-228A>C
XM_011534403.1:c.34-3631A>C	XP_011532705.1:n.34-3631A>C
XM_011534404.1:c.-205A>C	XP_011532706.1:n.-205A>C
NM_000232.5:c.180A>C MANE Select	NP_000223.1:p.Arg60Ser