Canonical Allele Identifier: CA356877957

Gene: SGCB

Linked Data

• MyVariant Identifiers: chr4:g.52899683G>T (hg19) ; chr4:g.52033517G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52033517G>T , CM000666.2:g.52033517G>T	GRCh38
NC_000004.11:g.52899683G>T , CM000666.1:g.52899683G>T	GRCh37
NC_000004.10:g.52594440G>T	NCBI36
NG_008891.1:g.9803C>A , LRG_204:g.9803C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.157C>A MANE Select	ENSP00000370839.6:p.His53Asn
ENST00000381431.9:c.157C>A	ENSP00000370839.5:p.His53Asn
ENST00000506357.5:c.143C>A
ENST00000514133.1:c.124C>A	ENSP00000425818.1:p.His42Asn
NM_000232.4:c.157C>A , LRG_204t1:c.157C>A	NP_000223.1:p.His53Asn
XM_006714049.2:c.-251C>A	XP_006714112.1:n.-251C>A
XM_011534403.1:c.34-3654C>A	XP_011532705.1:n.34-3654C>A
XM_011534404.1:c.-228C>A	XP_011532706.1:n.-228C>A
NM_000232.5:c.157C>A MANE Select	NP_000223.1:p.His53Asn