Canonical Allele Identifier: CA413007636

Linked Data

ClinVar Variation Id: 2854054
ClinVar RCV Id: RCV003688464

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949939G>T , CM000685.2:g.43949939G>T GRCh38
NC_000023.10:g.43809185G>T , CM000685.1:g.43809185G>T GRCh37
NC_000023.9:g.43694129G>T NCBI36
NG_009832.1:g.28737C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.262C>A (NDP) MANE Select ENSP00000495972.1:p.Pro88Thr
ENST00000647044.1:c.262C>A (NDP) ENSP00000495811.1:p.Pro88Thr
ENST00000378062.5:c.262C>A (NDP) ENSP00000367301.5:p.Pro88Thr
ENST00000470584.1:n.306C>A (NDP)
NM_000266.3:c.262C>A (NDP) NP_000257.1:p.Pro88Thr
NR_046631.1:n.208G>T (NDP-AS1)
NM_000266.4:c.262C>A (NDP) MANE Select NP_000257.1:p.Pro88Thr