Canonical Allele Identifier: CA255468

Linked Data

ClinVar Variation Id: 10681
ClinVar RCV Id: RCV000011427
dbSNP Id: rs104894869

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43950022A>T , CM000685.2:g.43950022A>T GRCh38
NC_000023.10:g.43809268A>T , CM000685.1:g.43809268A>T GRCh37
NC_000023.9:g.43694212A>T NCBI36
NG_009832.1:g.28654T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000642620.1:c.179T>A (NDP) MANE Select ENSP00000495972.1:p.Val60Glu
ENST00000647044.1:c.179T>A (NDP) ENSP00000495811.1:p.Val60Glu
ENST00000378062.5:c.179T>A (NDP) ENSP00000367301.5:p.Val60Glu
ENST00000470584.1:n.223T>A (NDP)
NM_000266.3:c.179T>A (NDP) NP_000257.1:p.Val60Glu
NR_046631.1:n.291A>T (NDP-AS1)
NM_000266.4:c.179T>A (NDP) MANE Select NP_000257.1:p.Val60Glu