Canonical Allele Identifier: CA10616114

Gene: SUCLG1

Linked Data

• ClinVar Variation Id: 337167
• ClinVar RCV Id: RCV000267322 ; RCV000303784 ; RCV003311768
• dbSNP Id: rs140936198
• gnomAD v2: 2-84686500-T-C
• gnomAD v3: 2-84459376-T-C
• gnomAD v4: 2-84459376-T-C
• MyVariant Identifiers: chr2:g.84686500T>C (hg19) ; chr2:g.84459376T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.84459376T>C , CM000664.2:g.84459376T>C	GRCh38
NC_000002.11:g.84686500T>C , CM000664.1:g.84686500T>C	GRCh37
NC_000002.10:g.84540011T>C	NCBI36
NG_016755.1:g.5087A>G
NG_050957.1:g.4837T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393868.6:c.-107A>G	ENSP00000377446.2:n.-107A>G
ENST00000491642.5:n.269+401A>G
NM_003849.3:c.-107A>G	NP_003840.2:n.-107A>G