Canonical Allele Identifier: CA512978367

Gene: SLC25A1

Linked Data

• gnomAD v4: 22-19176202-C-T
• MyVariant Identifiers: chr22:g.19163715C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176202C>T , CM000684.2:g.19176202C>T	GRCh38
NC_000022.10:g.19163715C>T , CM000684.1:g.19163715C>T	GRCh37
NC_000022.9:g.17543715C>T	NCBI36
NG_033863.1:g.7662G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.864G>A MANE Select	ENSP00000215882.5:p.Leu288=
ENST00000215882.9:c.864G>A	ENSP00000215882.5:p.Leu288=
ENST00000451283.5:c.555G>A	ENSP00000401480.1:p.Leu185=
ENST00000470922.5:n.1006G>A
NM_001256534.1:c.885G>A	NP_001243463.1:p.Leu295=
NM_001287387.1:c.555G>A	NP_001274316.1:p.Leu185=
NM_005984.4:c.864G>A	NP_005975.1:p.Leu288=
NR_046298.2:n.915G>A
NM_005984.5:c.864G>A MANE Select	NP_005975.1:p.Leu288=
NM_001256534.2:c.885G>A	NP_001243463.1:p.Leu295=
NM_001287387.2:c.555G>A	NP_001274316.1:p.Leu185=
NR_046298.3:n.788G>A