Canonical Allele Identifier: CA10097234

Gene: SLC25A1

Linked Data

• dbSNP Id: rs782009081
• ExAC: 22:19163630 G / A
• gnomAD v2: 22-19163630-G-A
• gnomAD v3: 22-19176117-G-A
• gnomAD v4: 22-19176117-G-A
• MyVariant Identifiers: chr22:g.19163630G>A (hg19) ; chr22:g.19176117G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176117G>A , CM000684.2:g.19176117G>A	GRCh38
NC_000022.10:g.19163630G>A , CM000684.1:g.19163630G>A	GRCh37
NC_000022.9:g.17543630G>A	NCBI36
NG_033863.1:g.7747C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.*13C>T MANE Select	ENSP00000215882.5:n.*13C>T
ENST00000215882.9:c.*13C>T	ENSP00000215882.5:n.*13C>T
ENST00000451283.5:c.*13C>T	ENSP00000401480.1:n.*13C>T
ENST00000470922.5:n.1091C>T
NM_001256534.1:c.*13C>T	NP_001243463.1:n.*13C>T
NM_001287387.1:c.*13C>T	NP_001274316.1:n.*13C>T
NM_005984.4:c.*13C>T	NP_005975.1:n.*13C>T
NR_046298.2:n.1000C>T
NM_005984.5:c.*13C>T MANE Select	NP_005975.1:n.*13C>T
NM_001256534.2:c.*13C>T	NP_001243463.1:n.*13C>T
NM_001287387.2:c.*13C>T	NP_001274316.1:n.*13C>T
NR_046298.3:n.873C>T