Canonical Allele Identifier: CA356877892

Gene: SGCB

Linked Data

• gnomAD v4: 4-52033489-C-T
• MyVariant Identifiers: chr4:g.52899655C>T (hg19) ; chr4:g.52033489C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52033489C>T , CM000666.2:g.52033489C>T	GRCh38
NC_000004.11:g.52899655C>T , CM000666.1:g.52899655C>T	GRCh37
NC_000004.10:g.52594412C>T	NCBI36
NG_008891.1:g.9831G>A , LRG_204:g.9831G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.185G>A MANE Select	ENSP00000370839.6:p.Gly62Asp
ENST00000381431.9:c.185G>A	ENSP00000370839.5:p.Gly62Asp
ENST00000506357.5:c.171G>A
ENST00000514133.1:c.152G>A	ENSP00000425818.1:p.Gly51Asp
NM_000232.4:c.185G>A , LRG_204t1:c.185G>A	NP_000223.1:p.Gly62Asp
XM_006714049.2:c.-223G>A	XP_006714112.1:n.-223G>A
XM_011534403.1:c.34-3626G>A	XP_011532705.1:n.34-3626G>A
XM_011534404.1:c.-200G>A	XP_011532706.1:n.-200G>A
NM_000232.5:c.185G>A MANE Select	NP_000223.1:p.Gly62Asp