Canonical Allele Identifier: CA356876817

Gene: SGCB

Linked Data

• MyVariant Identifiers: chr4:g.52894968G>T (hg19) ; chr4:g.52028802G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52028802G>T , CM000666.2:g.52028802G>T	GRCh38
NC_000004.11:g.52894968G>T , CM000666.1:g.52894968G>T	GRCh37
NC_000004.10:g.52589725G>T	NCBI36
NG_008891.1:g.14518C>A , LRG_204:g.14518C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.549C>A MANE Select	ENSP00000370839.6:p.Asp183Glu
ENST00000381431.9:c.549C>A	ENSP00000370839.5:p.Asp183Glu
ENST00000506357.5:c.632C>A
NM_000232.4:c.549C>A , LRG_204t1:c.549C>A	NP_000223.1:p.Asp183Glu
XM_006714049.2:c.252C>A	XP_006714112.1:p.Asp84Glu
XM_011534403.1:c.339C>A	XP_011532705.1:p.Asp113Glu
XM_011534404.1:c.252C>A	XP_011532706.1:p.Asp84Glu
NM_000232.5:c.549C>A MANE Select	NP_000223.1:p.Asp183Glu