Canonical Allele Identifier: CA10391414

Linked Data

ClinVar Variation Id: 1580262
ClinVar RCV Id: RCV002094775
dbSNP Id: rs765170187
gnomAD v2: X-43809222-G-A
gnomAD v3: X-43949976-G-A
gnomAD v4: X-43949976-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949976G>A , CM000685.2:g.43949976G>A GRCh38
NC_000023.10:g.43809222G>A , CM000685.1:g.43809222G>A GRCh37
NC_000023.9:g.43694166G>A NCBI36
NG_009832.1:g.28700C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000642620.1:c.225C>T (NDP) MANE Select ENSP00000495972.1:p.Ser75=
ENST00000647044.1:c.225C>T (NDP) ENSP00000495811.1:p.Ser75=
ENST00000378062.5:c.225C>T (NDP) ENSP00000367301.5:p.Ser75=
ENST00000470584.1:n.269C>T (NDP)
NM_000266.3:c.225C>T (NDP) NP_000257.1:p.Ser75=
NR_046631.1:n.245G>A (NDP-AS1)
NM_000266.4:c.225C>T (NDP) MANE Select NP_000257.1:p.Ser75=