Canonical Allele Identifier: CA10097240
Gene: SLC25A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 709443
ClinVar RCV Id: RCV000880844
dbSNP Id: rs148216577
ExAC: 22:19163652 C / T
gnomAD v2: 22-19163652-C-T
gnomAD v3: 22-19176139-C-T
gnomAD v4: 22-19176139-C-T
MyVariant Identifiers: chr22:g.19163652C>T (hg19) chr22:g.19176139C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176139C>T , CM000684.2:g.19176139C>T GRCh38
NC_000022.10:g.19163652C>T , CM000684.1:g.19163652C>T GRCh37
NC_000022.9:g.17543652C>T NCBI36
NG_033863.1:g.7725G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.927G>A MANE Select ENSP00000215882.5:p.Lys309=
ENST00000215882.9:c.927G>A ENSP00000215882.5:p.Lys309=
ENST00000451283.5:c.618G>A ENSP00000401480.1:p.Lys206=
ENST00000470922.5:n.1069G>A
NM_001256534.1:c.948G>A NP_001243463.1:p.Lys316=
NM_001287387.1:c.618G>A NP_001274316.1:p.Lys206=
NM_005984.4:c.927G>A NP_005975.1:p.Lys309=
NR_046298.2:n.978G>A
NM_005984.5:c.927G>A MANE Select NP_005975.1:p.Lys309=
NM_001256534.2:c.948G>A NP_001243463.1:p.Lys316=
NM_001287387.2:c.618G>A NP_001274316.1:p.Lys206=
NR_046298.3:n.851G>A
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