Canonical Allele Identifier: CA512978530
Gene: SLC25A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.19163748C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176235C>T , CM000684.2:g.19176235C>T GRCh38
NC_000022.10:g.19163748C>T , CM000684.1:g.19163748C>T GRCh37
NC_000022.9:g.17543748C>T NCBI36
NG_033863.1:g.7629G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.831G>A MANE Select ENSP00000215882.5:p.Lys277=
ENST00000215882.9:c.831G>A ENSP00000215882.5:p.Lys277=
ENST00000451283.5:c.522G>A ENSP00000401480.1:p.Lys174=
ENST00000470922.5:n.973G>A
NM_001256534.1:c.852G>A NP_001243463.1:p.Lys284=
NM_001287387.1:c.522G>A NP_001274316.1:p.Lys174=
NM_005984.4:c.831G>A NP_005975.1:p.Lys277=
NR_046298.2:n.882G>A
NM_005984.5:c.831G>A MANE Select NP_005975.1:p.Lys277=
NM_001256534.2:c.852G>A NP_001243463.1:p.Lys284=
NM_001287387.2:c.522G>A NP_001274316.1:p.Lys174=
NR_046298.3:n.755G>A