Canonical Allele Identifier: CA321343524

Gene: SLC25A1

Linked Data

• dbSNP Id: rs1049491523
• gnomAD v4: 22-19176156-G-A
• MyVariant Identifiers: chr22:g.19163669G>A (hg19) ; chr22:g.19176156G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176156G>A , CM000684.2:g.19176156G>A	GRCh38
NC_000022.10:g.19163669G>A , CM000684.1:g.19163669G>A	GRCh37
NC_000022.9:g.17543669G>A	NCBI36
NG_033863.1:g.7708C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.910C>T MANE Select	ENSP00000215882.5:p.Leu304Phe
ENST00000215882.9:c.910C>T	ENSP00000215882.5:p.Leu304Phe
ENST00000451283.5:c.601C>T	ENSP00000401480.1:p.Leu201Phe
ENST00000470922.5:n.1052C>T
NM_001256534.1:c.931C>T	NP_001243463.1:p.Leu311Phe
NM_001287387.1:c.601C>T	NP_001274316.1:p.Leu201Phe
NM_005984.4:c.910C>T	NP_005975.1:p.Leu304Phe
NR_046298.2:n.961C>T
NM_005984.5:c.910C>T MANE Select	NP_005975.1:p.Leu304Phe
NM_001256534.2:c.931C>T	NP_001243463.1:p.Leu311Phe
NM_001287387.2:c.601C>T	NP_001274316.1:p.Leu201Phe
NR_046298.3:n.834C>T