Canonical Allele Identifier: CA255470

Linked Data

ClinVar Variation Id: 10683
ClinVar RCV Id: RCV000011429
dbSNP Id: rs104894871

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949914C>T , CM000685.2:g.43949914C>T GRCh38
NC_000023.10:g.43809160C>T , CM000685.1:g.43809160C>T GRCh37
NC_000023.9:g.43694104C>T NCBI36
NG_009832.1:g.28762G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000642620.1:c.287G>A (NDP) MANE Select ENSP00000495972.1:p.Cys96Tyr
ENST00000647044.1:c.287G>A (NDP) ENSP00000495811.1:p.Cys96Tyr
ENST00000378062.5:c.287G>A (NDP) ENSP00000367301.5:p.Cys96Tyr
ENST00000470584.1:n.331G>A (NDP)
NM_000266.3:c.287G>A (NDP) NP_000257.1:p.Cys96Tyr
NR_046631.1:n.183C>T (NDP-AS1)
NM_000266.4:c.287G>A (NDP) MANE Select NP_000257.1:p.Cys96Tyr