Canonical Allele Identifier: CA6978006

Gene: SUCLA2

Linked Data

• ClinVar Variation Id: 1272107
• ClinVar RCV Id: RCV001684679 ; RCV002539676 ; RCV002073203 ; RCV003921330
• dbSNP Id: rs139004670
• ExAC: 13:48562844 A / G
• gnomAD v2: 13-48562844-A-G
• gnomAD v3: 13-47988709-A-G
• gnomAD v4: 13-47988709-A-G
• MyVariant Identifiers: chr13:g.48562844A>G (hg19) ; chr13:g.47988709A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.47988709A>G , CM000675.2:g.47988709A>G	GRCh38
NC_000013.10:g.48562844A>G , CM000675.1:g.48562844A>G	GRCh37
NC_000013.9:g.47460845A>G	NCBI36
NG_008241.1:g.17619T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642944.1:c.198-6T>C	ENSP00000495674.1:n.198-6T>C
ENST00000643023.1:c.372-6T>C	ENSP00000495664.1:n.372-6T>C
ENST00000643584.1:c.372-6T>C	ENSP00000494987.1:n.372-6T>C
ENST00000644338.1:c.372-6T>C	ENSP00000494723.1:n.372-6T>C
ENST00000646602.1:c.372-6T>C	ENSP00000495250.1:n.372-6T>C
ENST00000646804.1:c.198-6T>C	ENSP00000493977.1:n.198-6T>C
ENST00000646932.1:c.372-6T>C MANE Select	ENSP00000494360.1:n.372-6T>C
ENST00000647361.1:c.*165-6T>C	ENSP00000494607.1:n.*165-6T>C
ENST00000378654.8:c.372-6T>C	ENSP00000367923.3:n.372-6T>C
ENST00000433022.1:c.90+12471T>C	ENSP00000415091.1:n.90+12471T>C
ENST00000434484.5:c.162-6T>C	ENSP00000392771.1:n.162-6T>C
ENST00000470760.2:c.372-6T>C	ENSP00000488974.1:n.372-6T>C
ENST00000497202.6:c.466-6T>C	ENSP00000489175.1:n.466-6T>C
NM_003850.2:c.372-6T>C	NP_003841.1:n.372-6T>C
XM_011535292.1:c.135-6T>C	XP_011533594.1:n.135-6T>C
XM_011535293.1:c.-31-6T>C	XP_011533595.1:n.-31-6T>C
XR_941688.1:n.416-6T>C
NM_003850.3:c.372-6T>C MANE Select	NP_003841.1:n.372-6T>C