Canonical Allele Identifier: CA10097235

Gene: SLC25A1

Linked Data

• dbSNP Id: rs782150596
• ExAC: 22:19163631 G / T
• gnomAD v2: 22-19163631-G-T
• gnomAD v4: 22-19176118-G-T
• MyVariant Identifiers: chr22:g.19163631G>T (hg19) ; chr22:g.19176118G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176118G>T , CM000684.2:g.19176118G>T	GRCh38
NC_000022.10:g.19163631G>T , CM000684.1:g.19163631G>T	GRCh37
NC_000022.9:g.17543631G>T	NCBI36
NG_033863.1:g.7746C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.*12C>A MANE Select	ENSP00000215882.5:n.*12C>A
ENST00000215882.9:c.*12C>A	ENSP00000215882.5:n.*12C>A
ENST00000451283.5:c.*12C>A	ENSP00000401480.1:n.*12C>A
ENST00000470922.5:n.1090C>A
NM_001256534.1:c.*12C>A	NP_001243463.1:n.*12C>A
NM_001287387.1:c.*12C>A	NP_001274316.1:n.*12C>A
NM_005984.4:c.*12C>A	NP_005975.1:n.*12C>A
NR_046298.2:n.999C>A
NM_005984.5:c.*12C>A MANE Select	NP_005975.1:n.*12C>A
NM_001256534.2:c.*12C>A	NP_001243463.1:n.*12C>A
NM_001287387.2:c.*12C>A	NP_001274316.1:n.*12C>A
NR_046298.3:n.872C>A