Canonical Allele Identifier: CA513188138

Gene: SLC25A1

Linked Data

• gnomAD v4: 22-19177787-G-A
• MyVariant Identifiers: chr22:g.19165300G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19177787G>A , CM000684.2:g.19177787G>A	GRCh38
NC_000022.10:g.19165300G>A , CM000684.1:g.19165300G>A	GRCh37
NC_000022.9:g.17545300G>A	NCBI36
NG_033805.1:g.118930C>T
NG_033863.1:g.6077C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.381C>T MANE Select	ENSP00000215882.5:p.Cys127=
ENST00000215882.9:c.381C>T	ENSP00000215882.5:p.Cys127=
ENST00000451283.5:c.72C>T	ENSP00000401480.1:p.Cys24=
ENST00000461267.1:n.527C>T
ENST00000470922.5:n.523C>T
NM_001256534.1:c.402C>T	NP_001243463.1:p.Cys134=
NM_001287387.1:c.72C>T	NP_001274316.1:p.Cys24=
NM_005984.4:c.381C>T	NP_005975.1:p.Cys127=
NR_046298.2:n.492+155C>T
NM_005984.5:c.381C>T MANE Select	NP_005975.1:p.Cys127=
NM_001256534.2:c.402C>T	NP_001243463.1:p.Cys134=
NM_001287387.2:c.72C>T	NP_001274316.1:p.Cys24=
NR_046298.3:n.365+155C>T