Canonical Allele Identifier: CA10097413

Gene: SLC25A1

Linked Data

• dbSNP Id: rs201129067
• ExAC: 22:19164593 C / T
• gnomAD v2: 22-19164593-C-T
• gnomAD v3: 22-19177080-C-T
• gnomAD v4: 22-19177080-C-T
• MyVariant Identifiers: chr22:g.19164593C>T (hg19) ; chr22:g.19177080C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19177080C>T , CM000684.2:g.19177080C>T	GRCh38
NC_000022.10:g.19164593C>T , CM000684.1:g.19164593C>T	GRCh37
NC_000022.9:g.17544593C>T	NCBI36
NG_033863.1:g.6784G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.526+40G>A MANE Select	ENSP00000215882.5:n.526+40G>A
ENST00000215882.9:c.526+40G>A	ENSP00000215882.5:n.526+40G>A
ENST00000451283.5:c.217+40G>A	ENSP00000401480.1:n.217+40G>A
ENST00000461267.1:n.672+40G>A
ENST00000470922.5:n.668+40G>A
NM_001256534.1:c.547+40G>A	NP_001243463.1:n.547+40G>A
NM_001287387.1:c.217+40G>A	NP_001274316.1:n.217+40G>A
NM_005984.4:c.526+40G>A	NP_005975.1:n.526+40G>A
NR_046298.2:n.577+40G>A
NM_005984.5:c.526+40G>A MANE Select	NP_005975.1:n.526+40G>A
NM_001256534.2:c.547+40G>A	NP_001243463.1:n.547+40G>A
NM_001287387.2:c.217+40G>A	NP_001274316.1:n.217+40G>A
NR_046298.3:n.450+40G>A