Canonical Allele Identifier: CA1024086405

Gene: SLC25A1

Linked Data

• dbSNP Id: rs2083962513
• gnomAD v3: 22-19176511-C-T
• gnomAD v4: 22-19176511-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176511C>T , CM000684.2:g.19176511C>T	GRCh38
NC_000022.10:g.19164024C>T , CM000684.1:g.19164024C>T	GRCh37
NC_000022.9:g.17544024C>T	NCBI36
NG_033863.1:g.7353G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.748-17G>A MANE Select	ENSP00000215882.5:n.748-17G>A
ENST00000215882.9:c.748-17G>A	ENSP00000215882.5:n.748-17G>A
ENST00000451283.5:c.439-17G>A	ENSP00000401480.1:n.439-17G>A
ENST00000470922.5:n.890-17G>A
NM_001256534.1:c.769-17G>A	NP_001243463.1:n.769-17G>A
NM_001287387.1:c.439-17G>A	NP_001274316.1:n.439-17G>A
NM_005984.4:c.748-17G>A	NP_005975.1:n.748-17G>A
NR_046298.2:n.799-17G>A
NM_005984.5:c.748-17G>A MANE Select	NP_005975.1:n.748-17G>A
NM_001256534.2:c.769-17G>A	NP_001243463.1:n.769-17G>A
NM_001287387.2:c.439-17G>A	NP_001274316.1:n.439-17G>A
NR_046298.3:n.672-17G>A