Canonical Allele Identifier: CA10606816

Gene: SGCG

Linked Data

• ClinVar Variation Id: 290553
• ClinVar RCV Id: RCV000268479 ; RCV003485572
• dbSNP Id: rs200206447
• MyVariant Identifiers: chr13:g.23824858T>G (hg19) ; chr13:g.23250719T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23250719T>G , CM000675.2:g.23250719T>G	GRCh38
NC_000013.10:g.23824858T>G , CM000675.1:g.23824858T>G	GRCh37
NC_000013.9:g.22722858T>G	NCBI36
NG_008759.1:g.74799T>G , LRG_207:g.74799T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218867.4:c.385+2T>G MANE Select	ENSP00000218867.3:n.385+2T>G
ENST00000218867.3:c.385+2T>G	ENSP00000218867.3:n.385+2T>G
NM_000231.2:c.385+2T>G , LRG_207t1:c.385+2T>G	NP_000222.1:n.385+2T>G
XM_005266505.2:c.385+2T>G	XP_005266562.1:n.385+2T>G
XM_006719861.2:c.439+2T>G	XP_006719924.1:n.439+2T>G
XM_006719861.3:c.439+2T>G	XP_006719924.1:n.439+2T>G
XM_024449397.1:c.385+2T>G	XP_024305165.1:n.385+2T>G
NM_000231.3:c.385+2T>G MANE Select	NP_000222.2:n.385+2T>G
NM_001378244.1:c.439+2T>G	NP_001365173.1:n.439+2T>G
NM_001378245.1:c.385+2T>G	NP_001365174.1:n.385+2T>G
NM_001378246.1:c.385+2T>G	NP_001365175.1:n.385+2T>G