Canonical Allele Identifier: CA10097237

Gene: SLC25A1

Linked Data

• ClinVar Variation Id: 858154
• ClinVar RCV Id: RCV001063969
• dbSNP Id: rs781784304
• ExAC: 22:19163646 G / C
• gnomAD v2: 22-19163646-G-C
• gnomAD v3: 22-19176133-G-C
• gnomAD v4: 22-19176133-G-C
• MyVariant Identifiers: chr22:g.19163646G>C (hg19) ; chr22:g.19176133G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176133G>C , CM000684.2:g.19176133G>C	GRCh38
NC_000022.10:g.19163646G>C , CM000684.1:g.19163646G>C	GRCh37
NC_000022.9:g.17543646G>C	NCBI36
NG_033863.1:g.7731C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.933C>G MANE Select	ENSP00000215882.5:p.Asp311Glu
ENST00000215882.9:c.933C>G	ENSP00000215882.5:p.Asp311Glu
ENST00000451283.5:c.624C>G	ENSP00000401480.1:p.Asp208Glu
ENST00000470922.5:n.1075C>G
NM_001256534.1:c.954C>G	NP_001243463.1:p.Asp318Glu
NM_001287387.1:c.624C>G	NP_001274316.1:p.Asp208Glu
NM_005984.4:c.933C>G	NP_005975.1:p.Asp311Glu
NR_046298.2:n.984C>G
NM_005984.5:c.933C>G MANE Select	NP_005975.1:p.Asp311Glu
NM_001256534.2:c.954C>G	NP_001243463.1:p.Asp318Glu
NM_001287387.2:c.624C>G	NP_001274316.1:p.Asp208Glu
NR_046298.3:n.857C>G