Canonical Allele Identifier: CA10097282

Gene: SLC25A1

Linked Data

• dbSNP Id: rs374511541
• ExAC: 22:19163948 C / T
• gnomAD v2: 22-19163948-C-T
• gnomAD v4: 22-19176435-C-T
• MyVariant Identifiers: chr22:g.19163948C>T (hg19) ; chr22:g.19176435C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176435C>T , CM000684.2:g.19176435C>T	GRCh38
NC_000022.10:g.19163948C>T , CM000684.1:g.19163948C>T	GRCh37
NC_000022.9:g.17543948C>T	NCBI36
NG_033863.1:g.7429G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.807G>A MANE Select	ENSP00000215882.5:p.Lys269=
ENST00000215882.9:c.807G>A	ENSP00000215882.5:p.Lys269=
ENST00000451283.5:c.498G>A	ENSP00000401480.1:p.Lys166=
ENST00000470922.5:n.949G>A
NM_001256534.1:c.828G>A	NP_001243463.1:p.Lys276=
NM_001287387.1:c.498G>A	NP_001274316.1:p.Lys166=
NM_005984.4:c.807G>A	NP_005975.1:p.Lys269=
NR_046298.2:n.858G>A
NM_005984.5:c.807G>A MANE Select	NP_005975.1:p.Lys269=
NM_001256534.2:c.828G>A	NP_001243463.1:p.Lys276=
NM_001287387.2:c.498G>A	NP_001274316.1:p.Lys166=
NR_046298.3:n.731G>A