Canonical Allele Identifier: CA234312

Linked Data

ClinVar Variation Id: 167325
ClinVar RCV Id: RCV000153536
dbSNP Id: rs727504030

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949935A>G , CM000685.2:g.43949935A>G GRCh38
NC_000023.10:g.43809181A>G , CM000685.1:g.43809181A>G GRCh37
NC_000023.9:g.43694125A>G NCBI36
NG_009832.1:g.28741T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.266T>C (NDP) MANE Select ENSP00000495972.1:p.Phe89Ser
ENST00000647044.1:c.266T>C (NDP) ENSP00000495811.1:p.Phe89Ser
ENST00000378062.5:c.266T>C (NDP) ENSP00000367301.5:p.Phe89Ser
ENST00000470584.1:n.310T>C (NDP)
NM_000266.3:c.266T>C (NDP) NP_000257.1:p.Phe89Ser
NR_046631.1:n.204A>G (NDP-AS1)
NM_000266.4:c.266T>C (NDP) MANE Select NP_000257.1:p.Phe89Ser