Canonical Allele Identifier: CA387501699

Gene: SGCG

Linked Data

• ClinVar Variation Id: 555462
• ClinVar RCV Id: RCV000671286
• dbSNP Id: rs200206447
• MyVariant Identifiers: chr13:g.23824858T>A (hg19) ; chr13:g.23250719T>A (hg38)

Genomic Alleles

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

Transcript Alleles

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