Canonical Allele Identifier: CA513188142

Gene: SLC25A1

Linked Data

• gnomAD v4: 22-19177793-C-A
• MyVariant Identifiers: chr22:g.19165306C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19177793C>A , CM000684.2:g.19177793C>A	GRCh38
NC_000022.10:g.19165306C>A , CM000684.1:g.19165306C>A	GRCh37
NC_000022.9:g.17545306C>A	NCBI36
NG_033805.1:g.118924G>T
NG_033863.1:g.6071G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.375G>T MANE Select	ENSP00000215882.5:p.Leu125=
ENST00000215882.9:c.375G>T	ENSP00000215882.5:p.Leu125=
ENST00000451283.5:c.66G>T	ENSP00000401480.1:p.Leu22=
ENST00000461267.1:n.521G>T
ENST00000470922.5:n.517G>T
NM_001256534.1:c.396G>T	NP_001243463.1:p.Leu132=
NM_001287387.1:c.66G>T	NP_001274316.1:p.Leu22=
NM_005984.4:c.375G>T	NP_005975.1:p.Leu125=
NR_046298.2:n.492+149G>T
NM_005984.5:c.375G>T MANE Select	NP_005975.1:p.Leu125=
NM_001256534.2:c.396G>T	NP_001243463.1:p.Leu132=
NM_001287387.2:c.66G>T	NP_001274316.1:p.Leu22=
NR_046298.3:n.365+149G>T