Canonical Allele Identifier: CA513188143

Gene: SLC25A1

Linked Data

• MyVariant Identifiers: chr22:g.19165306C>G (hg19)

Genomic Alleles

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

Transcript Alleles

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