Canonical Allele Identifier: CA10643098

Gene: SGCG

Linked Data

• ClinVar Variation Id: 311479
• ClinVar RCV Id: RCV000301117 ; RCV000393937 ; RCV000438808 ; RCV003401314 ; RCV003940202
• dbSNP Id: rs141771521
• gnomAD v2: 13-23755209-T-C
• gnomAD v3: 13-23181070-T-C
• gnomAD v4: 13-23181070-T-C
• MyVariant Identifiers: chr13:g.23755209T>C (hg19) ; chr13:g.23181070T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23181070T>C , CM000675.2:g.23181070T>C	GRCh38
NC_000013.10:g.23755209T>C , CM000675.1:g.23755209T>C	GRCh37
NC_000013.9:g.22653209T>C	NCBI36
NG_008759.1:g.5150T>C , LRG_207:g.5150T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218867.4:c.-6T>C MANE Select	ENSP00000218867.3:n.-6T>C
ENST00000218867.3:c.-6T>C	ENSP00000218867.3:n.-6T>C
NM_000231.2:c.-6T>C , LRG_207t1:c.-6T>C	NP_000222.1:n.-6T>C
XM_005266505.2:c.-157T>C	XP_005266562.1:n.-157T>C
XM_006719861.2:c.54+20424T>C	XP_006719924.1:n.54+20424T>C
XM_006719861.3:c.54+20424T>C	XP_006719924.1:n.54+20424T>C
XM_024449397.1:c.-152+87T>C	XP_024305165.1:n.-152+87T>C
NM_000231.3:c.-6T>C MANE Select	NP_000222.2:n.-6T>C
NM_001378244.1:c.54+20424T>C	NP_001365173.1:n.54+20424T>C
NM_001378245.1:c.-152+87T>C	NP_001365174.1:n.-152+87T>C
NM_001378246.1:c.-157T>C	NP_001365175.1:n.-157T>C