Canonical Allele Identifier: CA173465
Gene: SLC25A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 159909
ClinVar RCV Id: RCV000147501 RCV000677069 RCV003917455
dbSNP Id: rs144180074
ExAC: 22:19163685 A / G
gnomAD v2: 22-19163685-A-G
gnomAD v3: 22-19176172-A-G
gnomAD v4: 22-19176172-A-G
MyVariant Identifiers: chr22:g.19163685A>G (hg19) chr22:g.19176172A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176172A>G , CM000684.2:g.19176172A>G GRCh38
NC_000022.10:g.19163685A>G , CM000684.1:g.19163685A>G GRCh37
NC_000022.9:g.17543685A>G NCBI36
NG_033863.1:g.7692T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.894T>C MANE Select ENSP00000215882.5:p.Asp298=
ENST00000215882.9:c.894T>C ENSP00000215882.5:p.Asp298=
ENST00000451283.5:c.585T>C ENSP00000401480.1:p.Asp195=
ENST00000470922.5:n.1036T>C
NM_001256534.1:c.915T>C NP_001243463.1:p.Asp305=
NM_001287387.1:c.585T>C NP_001274316.1:p.Asp195=
NM_005984.4:c.894T>C NP_005975.1:p.Asp298=
NR_046298.2:n.945T>C
NM_005984.5:c.894T>C MANE Select NP_005975.1:p.Asp298=
NM_001256534.2:c.915T>C NP_001243463.1:p.Asp305=
NM_001287387.2:c.585T>C NP_001274316.1:p.Asp195=
NR_046298.3:n.818T>C
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