Canonical Allele Identifier: CA512979683

Gene: SLC25A1

Linked Data

• dbSNP Id: rs868950142
• gnomAD v3: 22-19177079-C-T
• gnomAD v4: 22-19177079-C-T
• MyVariant Identifiers: chr22:g.19164592C>T (hg19) ; chr22:g.19177079C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19177079C>T , CM000684.2:g.19177079C>T	GRCh38
NC_000022.10:g.19164592C>T , CM000684.1:g.19164592C>T	GRCh37
NC_000022.9:g.17544592C>T	NCBI36
NG_033863.1:g.6785G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.526+41G>A MANE Select	ENSP00000215882.5:n.526+41G>A
ENST00000215882.9:c.526+41G>A	ENSP00000215882.5:n.526+41G>A
ENST00000451283.5:c.217+41G>A	ENSP00000401480.1:n.217+41G>A
ENST00000461267.1:n.672+41G>A
ENST00000470922.5:n.668+41G>A
NM_001256534.1:c.547+41G>A	NP_001243463.1:n.547+41G>A
NM_001287387.1:c.217+41G>A	NP_001274316.1:n.217+41G>A
NM_005984.4:c.526+41G>A	NP_005975.1:n.526+41G>A
NR_046298.2:n.577+41G>A
NM_005984.5:c.526+41G>A MANE Select	NP_005975.1:n.526+41G>A
NM_001256534.2:c.547+41G>A	NP_001243463.1:n.547+41G>A
NM_001287387.2:c.217+41G>A	NP_001274316.1:n.217+41G>A
NR_046298.3:n.450+41G>A