Canonical Allele Identifier: CA512977995
Gene: SLC25A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.19163643T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176130T>C , CM000684.2:g.19176130T>C GRCh38
NC_000022.10:g.19163643T>C , CM000684.1:g.19163643T>C GRCh37
NC_000022.9:g.17543643T>C NCBI36
NG_033863.1:g.7734A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.936A>G MANE Select ENSP00000215882.5:p.Ter312=
ENST00000215882.9:c.936A>G ENSP00000215882.5:p.Ter312=
ENST00000451283.5:c.627A>G ENSP00000401480.1:p.Ter209=
ENST00000470922.5:n.1078A>G
NM_001256534.1:c.957A>G NP_001243463.1:p.Ter319=
NM_001287387.1:c.627A>G NP_001274316.1:p.Ter209=
NM_005984.4:c.936A>G NP_005975.1:p.Ter312=
NR_046298.2:n.987A>G
NM_005984.5:c.936A>G MANE Select NP_005975.1:p.Ter312=
NM_001256534.2:c.957A>G NP_001243463.1:p.Ter319=
NM_001287387.2:c.627A>G NP_001274316.1:p.Ter209=
NR_046298.3:n.860A>G