Canonical Allele Identifier: CA513188145

Gene: SLC25A1

Linked Data

• dbSNP Id: rs1555922962
• gnomAD v4: 22-19177795-G-A
• MyVariant Identifiers: chr22:g.19165308G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19177795G>A , CM000684.2:g.19177795G>A	GRCh38
NC_000022.10:g.19165308G>A , CM000684.1:g.19165308G>A	GRCh37
NC_000022.9:g.17545308G>A	NCBI36
NG_033805.1:g.118922C>T
NG_033863.1:g.6069C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.373C>T MANE Select	ENSP00000215882.5:p.Leu125=
ENST00000215882.9:c.373C>T	ENSP00000215882.5:p.Leu125=
ENST00000451283.5:c.64C>T	ENSP00000401480.1:p.Leu22=
ENST00000461267.1:n.519C>T
ENST00000470922.5:n.515C>T
NM_001256534.1:c.394C>T	NP_001243463.1:p.Leu132=
NM_001287387.1:c.64C>T	NP_001274316.1:p.Leu22=
NM_005984.4:c.373C>T	NP_005975.1:p.Leu125=
NR_046298.2:n.492+147C>T
NM_005984.5:c.373C>T MANE Select	NP_005975.1:p.Leu125=
NM_001256534.2:c.394C>T	NP_001243463.1:p.Leu132=
NM_001287387.2:c.64C>T	NP_001274316.1:p.Leu22=
NR_046298.3:n.365+147C>T