Canonical Allele Identifier: CA410634627

Gene: SLC25A1

Linked Data

• MyVariant Identifiers: chr22:g.19163976C>A (hg19) ; chr22:g.19176463C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176463C>A , CM000684.2:g.19176463C>A	GRCh38
NC_000022.10:g.19163976C>A , CM000684.1:g.19163976C>A	GRCh37
NC_000022.9:g.17543976C>A	NCBI36
NG_033863.1:g.7401G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.779G>T MANE Select	ENSP00000215882.5:p.Trp260Leu
ENST00000215882.9:c.779G>T	ENSP00000215882.5:p.Trp260Leu
ENST00000451283.5:c.470G>T	ENSP00000401480.1:p.Trp157Leu
ENST00000470922.5:n.921G>T
NM_001256534.1:c.800G>T	NP_001243463.1:p.Trp267Leu
NM_001287387.1:c.470G>T	NP_001274316.1:p.Trp157Leu
NM_005984.4:c.779G>T	NP_005975.1:p.Trp260Leu
NR_046298.2:n.830G>T
NM_005984.5:c.779G>T MANE Select	NP_005975.1:p.Trp260Leu
NM_001256534.2:c.800G>T	NP_001243463.1:p.Trp267Leu
NM_001287387.2:c.470G>T	NP_001274316.1:p.Trp157Leu
NR_046298.3:n.703G>T