Canonical Allele Identifier: CA413007967

Linked Data

ClinVar Variation Id: 522928
ClinVar RCV Id: RCV000626125
dbSNP Id: rs1460859456

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43950001C>A , CM000685.2:g.43950001C>A GRCh38
NC_000023.10:g.43809247C>A , CM000685.1:g.43809247C>A GRCh37
NC_000023.9:g.43694191C>A NCBI36
NG_009832.1:g.28675G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000642620.1:c.200G>T (NDP) MANE Select ENSP00000495972.1:p.Gly67Val
ENST00000647044.1:c.200G>T (NDP) ENSP00000495811.1:p.Gly67Val
ENST00000378062.5:c.200G>T (NDP) ENSP00000367301.5:p.Gly67Val
ENST00000470584.1:n.244G>T (NDP)
NM_000266.3:c.200G>T (NDP) NP_000257.1:p.Gly67Val
NR_046631.1:n.270C>A (NDP-AS1)
NM_000266.4:c.200G>T (NDP) MANE Select NP_000257.1:p.Gly67Val