Canonical Allele Identifier: CA2697551664
Gene: SGCG HGNC NCBI

Linked Data

ClinVar Variation Id: 2752818
ClinVar RCV Id: RCV003498380

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23203904T>G , CM000675.2:g.23203904T>G GRCh38
NC_000013.10:g.23778043T>G , CM000675.1:g.23778043T>G GRCh37
NC_000013.9:g.22676043T>G NCBI36
NG_008759.1:g.27984T>G , LRG_207:g.27984T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000218867.4:c.195+15T>G MANE Select ENSP00000218867.3:n.195+15T>G
ENST00000218867.3:c.195+15T>G ENSP00000218867.3:n.195+15T>G
NM_000231.2:c.195+15T>G , LRG_207t1:c.195+15T>G NP_000222.1:n.195+15T>G
XM_005266505.2:c.195+15T>G XP_005266562.1:n.195+15T>G
XM_006719861.2:c.249+15T>G XP_006719924.1:n.249+15T>G
XM_006719861.3:c.249+15T>G XP_006719924.1:n.249+15T>G
XM_024449397.1:c.195+15T>G XP_024305165.1:n.195+15T>G
NM_000231.3:c.195+15T>G MANE Select NP_000222.2:n.195+15T>G
NM_001378244.1:c.249+15T>G NP_001365173.1:n.249+15T>G
NM_001378245.1:c.195+15T>G NP_001365174.1:n.195+15T>G
NM_001378246.1:c.195+15T>G NP_001365175.1:n.195+15T>G