Canonical Allele Identifier: CA696646196

Gene: SGCG

Linked Data

• ClinVar Variation Id: 2689958
• ClinVar RCV Id: RCV003486237
• dbSNP Id: rs1173625904
• gnomAD v4: 13-23203892-A-T
• MyVariant Identifiers: chr13:g.23778031A>T (hg19) ; chr13:g.23203892A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23203892A>T , CM000675.2:g.23203892A>T	GRCh38
NC_000013.10:g.23778031A>T , CM000675.1:g.23778031A>T	GRCh37
NC_000013.9:g.22676031A>T	NCBI36
NG_008759.1:g.27972A>T , LRG_207:g.27972A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000218867.4:c.195+3A>T MANE Select	ENSP00000218867.3:n.195+3A>T
ENST00000218867.3:c.195+3A>T	ENSP00000218867.3:n.195+3A>T
NM_000231.2:c.195+3A>T , LRG_207t1:c.195+3A>T	NP_000222.1:n.195+3A>T
XM_005266505.2:c.195+3A>T	XP_005266562.1:n.195+3A>T
XM_006719861.2:c.249+3A>T	XP_006719924.1:n.249+3A>T
XM_006719861.3:c.249+3A>T	XP_006719924.1:n.249+3A>T
XM_024449397.1:c.195+3A>T	XP_024305165.1:n.195+3A>T
NM_000231.3:c.195+3A>T MANE Select	NP_000222.2:n.195+3A>T
NM_001378244.1:c.249+3A>T	NP_001365173.1:n.249+3A>T
NM_001378245.1:c.195+3A>T	NP_001365174.1:n.195+3A>T
NM_001378246.1:c.195+3A>T	NP_001365175.1:n.195+3A>T