Canonical Allele Identifier: CA513188399
Gene: SLC25A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.19164163G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176650G>A , CM000684.2:g.19176650G>A GRCh38
NC_000022.10:g.19164163G>A , CM000684.1:g.19164163G>A GRCh37
NC_000022.9:g.17544163G>A NCBI36
NG_033863.1:g.7214C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.675C>T MANE Select ENSP00000215882.5:p.Val225=
ENST00000215882.9:c.675C>T ENSP00000215882.5:p.Val225=
ENST00000451283.5:c.366C>T ENSP00000401480.1:p.Val122=
ENST00000470922.5:n.817C>T
NM_001256534.1:c.696C>T NP_001243463.1:p.Val232=
NM_001287387.1:c.366C>T NP_001274316.1:p.Val122=
NM_005984.4:c.675C>T NP_005975.1:p.Val225=
NR_046298.2:n.726C>T
NM_005984.5:c.675C>T MANE Select NP_005975.1:p.Val225=
NM_001256534.2:c.696C>T NP_001243463.1:p.Val232=
NM_001287387.2:c.366C>T NP_001274316.1:p.Val122=
NR_046298.3:n.599C>T