Canonical Allele Identifier: CA246629092

Gene: SGCG

Linked Data

• ClinVar Variation Id: 2144660
• ClinVar RCV Id: RCV003071044
• dbSNP Id: rs532463691
• gnomAD v2: 13-23778033-G-A
• gnomAD v3: 13-23203894-G-A
• gnomAD v4: 13-23203894-G-A
• MyVariant Identifiers: chr13:g.23778033G>A (hg19) ; chr13:g.23203894G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23203894G>A , CM000675.2:g.23203894G>A	GRCh38
NC_000013.10:g.23778033G>A , CM000675.1:g.23778033G>A	GRCh37
NC_000013.9:g.22676033G>A	NCBI36
NG_008759.1:g.27974G>A , LRG_207:g.27974G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000218867.4:c.195+5G>A MANE Select	ENSP00000218867.3:n.195+5G>A
ENST00000218867.3:c.195+5G>A	ENSP00000218867.3:n.195+5G>A
NM_000231.2:c.195+5G>A , LRG_207t1:c.195+5G>A	NP_000222.1:n.195+5G>A
XM_005266505.2:c.195+5G>A	XP_005266562.1:n.195+5G>A
XM_006719861.2:c.249+5G>A	XP_006719924.1:n.249+5G>A
XM_006719861.3:c.249+5G>A	XP_006719924.1:n.249+5G>A
XM_024449397.1:c.195+5G>A	XP_024305165.1:n.195+5G>A
NM_000231.3:c.195+5G>A MANE Select	NP_000222.2:n.195+5G>A
NM_001378244.1:c.249+5G>A	NP_001365173.1:n.249+5G>A
NM_001378245.1:c.195+5G>A	NP_001365174.1:n.195+5G>A
NM_001378246.1:c.195+5G>A	NP_001365175.1:n.195+5G>A