Canonical Allele Identifier: CA10391417

Linked Data

ClinVar Variation Id: 1366272
ClinVar RCV Id: RCV001930082
dbSNP Id: rs757962845
gnomAD v2: X-43809252-G-A
gnomAD v3: X-43950006-G-A
gnomAD v4: X-43950006-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43950006G>A , CM000685.2:g.43950006G>A GRCh38
NC_000023.10:g.43809252G>A , CM000685.1:g.43809252G>A GRCh37
NC_000023.9:g.43694196G>A NCBI36
NG_009832.1:g.28670C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000642620.1:c.195C>T (NDP) MANE Select ENSP00000495972.1:p.Cys65=
ENST00000647044.1:c.195C>T (NDP) ENSP00000495811.1:p.Cys65=
ENST00000378062.5:c.195C>T (NDP) ENSP00000367301.5:p.Cys65=
ENST00000470584.1:n.239C>T (NDP)
NM_000266.3:c.195C>T (NDP) NP_000257.1:p.Cys65=
NR_046631.1:n.275G>A (NDP-AS1)
NM_000266.4:c.195C>T (NDP) MANE Select NP_000257.1:p.Cys65=