Canonical Allele Identifier: CA413008993

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43958495G>T , CM000685.2:g.43958495G>T GRCh38
NC_000023.10:g.43817741G>T , CM000685.1:g.43817741G>T GRCh37
NC_000023.9:g.43702685G>T NCBI36
NG_009832.1:g.20181C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.151C>A (NDP) MANE Select ENSP00000495972.1:p.Pro51Thr
ENST00000647044.1:c.151C>A (NDP) ENSP00000495811.1:p.Pro51Thr
ENST00000378062.5:c.151C>A (NDP) ENSP00000367301.5:p.Pro51Thr
ENST00000470584.1:n.218+223C>A (NDP)
NM_000266.3:c.151C>A (NDP) NP_000257.1:p.Pro51Thr
NR_046631.1:n.467-2290G>T (NDP-AS1)
NM_000266.4:c.151C>A (NDP) MANE Select NP_000257.1:p.Pro51Thr