Canonical Allele Identifier: CA410633883

Gene: SLC25A1

Linked Data

• MyVariant Identifiers: chr22:g.19163716A>T (hg19) ; chr22:g.19176203A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176203A>T , CM000684.2:g.19176203A>T	GRCh38
NC_000022.10:g.19163716A>T , CM000684.1:g.19163716A>T	GRCh37
NC_000022.9:g.17543716A>T	NCBI36
NG_033863.1:g.7661T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.863T>A MANE Select	ENSP00000215882.5:p.Leu288Gln
ENST00000215882.9:c.863T>A	ENSP00000215882.5:p.Leu288Gln
ENST00000451283.5:c.554T>A	ENSP00000401480.1:p.Leu185Gln
ENST00000470922.5:n.1005T>A
NM_001256534.1:c.884T>A	NP_001243463.1:p.Leu295Gln
NM_001287387.1:c.554T>A	NP_001274316.1:p.Leu185Gln
NM_005984.4:c.863T>A	NP_005975.1:p.Leu288Gln
NR_046298.2:n.914T>A
NM_005984.5:c.863T>A MANE Select	NP_005975.1:p.Leu288Gln
NM_001256534.2:c.884T>A	NP_001243463.1:p.Leu295Gln
NM_001287387.2:c.554T>A	NP_001274316.1:p.Leu185Gln
NR_046298.3:n.787T>A