Canonical Allele Identifier: CA10391406

Linked Data

dbSNP Id: rs779079304
gnomAD v2: X-43809104-G-T
gnomAD v4: X-43949858-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949858G>T , CM000685.2:g.43949858G>T GRCh38
NC_000023.10:g.43809104G>T , CM000685.1:g.43809104G>T GRCh37
NC_000023.9:g.43694048G>T NCBI36
NG_009832.1:g.28818C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000642620.1:c.343C>A (NDP) MANE Select ENSP00000495972.1:p.Arg115=
ENST00000647044.1:c.343C>A (NDP) ENSP00000495811.1:p.Arg115=
ENST00000378062.5:c.343C>A (NDP) ENSP00000367301.5:p.Arg115=
ENST00000470584.1:n.387C>A (NDP)
NM_000266.3:c.343C>A (NDP) NP_000257.1:p.Arg115=
NR_046631.1:n.127G>T (NDP-AS1)
NM_000266.4:c.343C>A (NDP) MANE Select NP_000257.1:p.Arg115=