Canonical Allele Identifier: CA410636495

Gene: SLC25A1

Linked Data

• gnomAD v4: 22-19176652-C-A
• MyVariant Identifiers: chr22:g.19164165C>A (hg19) ; chr22:g.19176652C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176652C>A , CM000684.2:g.19176652C>A	GRCh38
NC_000022.10:g.19164165C>A , CM000684.1:g.19164165C>A	GRCh37
NC_000022.9:g.17544165C>A	NCBI36
NG_033863.1:g.7212G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.673G>T MANE Select	ENSP00000215882.5:p.Val225Phe
ENST00000215882.9:c.673G>T	ENSP00000215882.5:p.Val225Phe
ENST00000451283.5:c.364G>T	ENSP00000401480.1:p.Val122Phe
ENST00000470922.5:n.815G>T
NM_001256534.1:c.694G>T	NP_001243463.1:p.Val232Phe
NM_001287387.1:c.364G>T	NP_001274316.1:p.Val122Phe
NM_005984.4:c.673G>T	NP_005975.1:p.Val225Phe
NR_046298.2:n.724G>T
NM_005984.5:c.673G>T MANE Select	NP_005975.1:p.Val225Phe
NM_001256534.2:c.694G>T	NP_001243463.1:p.Val232Phe
NM_001287387.2:c.364G>T	NP_001274316.1:p.Val122Phe
NR_046298.3:n.597G>T