Canonical Allele Identifier: CA356877842

Gene: SGCB

Linked Data

• MyVariant Identifiers: chr4:g.52899631A>T (hg19) ; chr4:g.52033465A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52033465A>T , CM000666.2:g.52033465A>T	GRCh38
NC_000004.11:g.52899631A>T , CM000666.1:g.52899631A>T	GRCh37
NC_000004.10:g.52594388A>T	NCBI36
NG_008891.1:g.9855T>A , LRG_204:g.9855T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.209T>A MANE Select	ENSP00000370839.6:p.Ile70Asn
ENST00000381431.9:c.209T>A	ENSP00000370839.5:p.Ile70Asn
ENST00000506357.5:c.195T>A
ENST00000514133.1:c.176T>A	ENSP00000425818.1:p.Ile59Asn
NM_000232.4:c.209T>A , LRG_204t1:c.209T>A	NP_000223.1:p.Ile70Asn
XM_006714049.2:c.-199T>A	XP_006714112.1:n.-199T>A
XM_011534403.1:c.34-3602T>A	XP_011532705.1:n.34-3602T>A
XM_011534404.1:c.-176T>A	XP_011532706.1:n.-176T>A
NM_000232.5:c.209T>A MANE Select	NP_000223.1:p.Ile70Asn