Canonical Allele Identifier: CA410639164

Gene: SLC25A1

Linked Data

• MyVariant Identifiers: chr22:g.19165301C>T (hg19) ; chr22:g.19177788C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19177788C>T , CM000684.2:g.19177788C>T	GRCh38
NC_000022.10:g.19165301C>T , CM000684.1:g.19165301C>T	GRCh37
NC_000022.9:g.17545301C>T	NCBI36
NG_033805.1:g.118929G>A
NG_033863.1:g.6076G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000215882.10:c.380G>A MANE Select	ENSP00000215882.5:p.Cys127Tyr
ENST00000215882.9:c.380G>A	ENSP00000215882.5:p.Cys127Tyr
ENST00000451283.5:c.71G>A	ENSP00000401480.1:p.Cys24Tyr
ENST00000461267.1:n.526G>A
ENST00000470922.5:n.522G>A
NM_001256534.1:c.401G>A	NP_001243463.1:p.Cys134Tyr
NM_001287387.1:c.71G>A	NP_001274316.1:p.Cys24Tyr
NM_005984.4:c.380G>A	NP_005975.1:p.Cys127Tyr
NR_046298.2:n.492+154G>A
NM_005984.5:c.380G>A MANE Select	NP_005975.1:p.Cys127Tyr
NM_001256534.2:c.401G>A	NP_001243463.1:p.Cys134Tyr
NM_001287387.2:c.71G>A	NP_001274316.1:p.Cys24Tyr
NR_046298.3:n.365+154G>A