Canonical Allele Identifier: CA512978332

Gene: SLC25A1

Linked Data

• gnomAD v4: 22-19176196-C-A
• MyVariant Identifiers: chr22:g.19163709C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176196C>A , CM000684.2:g.19176196C>A	GRCh38
NC_000022.10:g.19163709C>A , CM000684.1:g.19163709C>A	GRCh37
NC_000022.9:g.17543709C>A	NCBI36
NG_033863.1:g.7668G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.870G>T MANE Select	ENSP00000215882.5:p.Val290=
ENST00000215882.9:c.870G>T	ENSP00000215882.5:p.Val290=
ENST00000451283.5:c.561G>T	ENSP00000401480.1:p.Val187=
ENST00000470922.5:n.1012G>T
NM_001256534.1:c.891G>T	NP_001243463.1:p.Val297=
NM_001287387.1:c.561G>T	NP_001274316.1:p.Val187=
NM_005984.4:c.870G>T	NP_005975.1:p.Val290=
NR_046298.2:n.921G>T
NM_005984.5:c.870G>T MANE Select	NP_005975.1:p.Val290=
NM_001256534.2:c.891G>T	NP_001243463.1:p.Val297=
NM_001287387.2:c.561G>T	NP_001274316.1:p.Val187=
NR_046298.3:n.794G>T