Canonical Allele Identifier: CA410633743

Gene: SLC25A1

Linked Data

• MyVariant Identifiers: chr22:g.19163696C>A (hg19) ; chr22:g.19176183C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176183C>A , CM000684.2:g.19176183C>A	GRCh38
NC_000022.10:g.19163696C>A , CM000684.1:g.19163696C>A	GRCh37
NC_000022.9:g.17543696C>A	NCBI36
NG_033863.1:g.7681G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.883G>T MANE Select	ENSP00000215882.5:p.Val295Phe
ENST00000215882.9:c.883G>T	ENSP00000215882.5:p.Val295Phe
ENST00000451283.5:c.574G>T	ENSP00000401480.1:p.Val192Phe
ENST00000470922.5:n.1025G>T
NM_001256534.1:c.904G>T	NP_001243463.1:p.Val302Phe
NM_001287387.1:c.574G>T	NP_001274316.1:p.Val192Phe
NM_005984.4:c.883G>T	NP_005975.1:p.Val295Phe
NR_046298.2:n.934G>T
NM_005984.5:c.883G>T MANE Select	NP_005975.1:p.Val295Phe
NM_001256534.2:c.904G>T	NP_001243463.1:p.Val302Phe
NM_001287387.2:c.574G>T	NP_001274316.1:p.Val192Phe
NR_046298.3:n.807G>T