Canonical Allele Identifier: CA255484

Linked Data

ClinVar Variation Id: 10697
ClinVar RCV Id: RCV000011443
dbSNP Id: rs137852221

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43958512A>T , CM000685.2:g.43958512A>T GRCh38
NC_000023.10:g.43817758A>T , CM000685.1:g.43817758A>T GRCh37
NC_000023.9:g.43702702A>T NCBI36
NG_009832.1:g.20164T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000642620.1:c.134T>A (NDP) MANE Select ENSP00000495972.1:p.Val45Glu
ENST00000647044.1:c.134T>A (NDP) ENSP00000495811.1:p.Val45Glu
ENST00000378062.5:c.134T>A (NDP) ENSP00000367301.5:p.Val45Glu
ENST00000470584.1:n.218+206T>A (NDP)
NM_000266.3:c.134T>A (NDP) NP_000257.1:p.Val45Glu
NR_046631.1:n.467-2273A>T (NDP-AS1)
NM_000266.4:c.134T>A (NDP) MANE Select NP_000257.1:p.Val45Glu