Canonical Allele Identifier: CA410633895

Gene: SLC25A1

Linked Data

• gnomAD v4: 22-19176206-C-A
• MyVariant Identifiers: chr22:g.19163719C>A (hg19) ; chr22:g.19176206C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176206C>A , CM000684.2:g.19176206C>A	GRCh38
NC_000022.10:g.19163719C>A , CM000684.1:g.19163719C>A	GRCh37
NC_000022.9:g.17543719C>A	NCBI36
NG_033863.1:g.7658G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.860G>T MANE Select	ENSP00000215882.5:p.Cys287Phe
ENST00000215882.9:c.860G>T	ENSP00000215882.5:p.Cys287Phe
ENST00000451283.5:c.551G>T	ENSP00000401480.1:p.Cys184Phe
ENST00000470922.5:n.1002G>T
NM_001256534.1:c.881G>T	NP_001243463.1:p.Cys294Phe
NM_001287387.1:c.551G>T	NP_001274316.1:p.Cys184Phe
NM_005984.4:c.860G>T	NP_005975.1:p.Cys287Phe
NR_046298.2:n.911G>T
NM_005984.5:c.860G>T MANE Select	NP_005975.1:p.Cys287Phe
NM_001256534.2:c.881G>T	NP_001243463.1:p.Cys294Phe
NM_001287387.2:c.551G>T	NP_001274316.1:p.Cys184Phe
NR_046298.3:n.784G>T