Canonical Allele Identifier: CA255479

Linked Data

ClinVar Variation Id: 10690
ClinVar RCV Id: RCV000011436
dbSNP Id: rs104894880
gnomAD v4: X-43950020-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43950020G>A , CM000685.2:g.43950020G>A GRCh38
NC_000023.10:g.43809266G>A , CM000685.1:g.43809266G>A GRCh37
NC_000023.9:g.43694210G>A NCBI36
NG_009832.1:g.28656C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.181C>T (NDP) MANE Select ENSP00000495972.1:p.Leu61Phe
ENST00000647044.1:c.181C>T (NDP) ENSP00000495811.1:p.Leu61Phe
ENST00000378062.5:c.181C>T (NDP) ENSP00000367301.5:p.Leu61Phe
ENST00000470584.1:n.225C>T (NDP)
NM_000266.3:c.181C>T (NDP) NP_000257.1:p.Leu61Phe
NR_046631.1:n.289G>A (NDP-AS1)
NM_000266.4:c.181C>T (NDP) MANE Select NP_000257.1:p.Leu61Phe