Canonical Allele Identifier: CA512978440

Gene: SLC25A1

Linked Data

• MyVariant Identifiers: chr22:g.19163730C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176217C>G , CM000684.2:g.19176217C>G	GRCh38
NC_000022.10:g.19163730C>G , CM000684.1:g.19163730C>G	GRCh37
NC_000022.9:g.17543730C>G	NCBI36
NG_033863.1:g.7647G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.849G>C MANE Select	ENSP00000215882.5:p.Leu283=
ENST00000215882.9:c.849G>C	ENSP00000215882.5:p.Leu283=
ENST00000451283.5:c.540G>C	ENSP00000401480.1:p.Leu180=
ENST00000470922.5:n.991G>C
NM_001256534.1:c.870G>C	NP_001243463.1:p.Leu290=
NM_001287387.1:c.540G>C	NP_001274316.1:p.Leu180=
NM_005984.4:c.849G>C	NP_005975.1:p.Leu283=
NR_046298.2:n.900G>C
NM_005984.5:c.849G>C MANE Select	NP_005975.1:p.Leu283=
NM_001256534.2:c.870G>C	NP_001243463.1:p.Leu290=
NM_001287387.2:c.540G>C	NP_001274316.1:p.Leu180=
NR_046298.3:n.773G>C