Canonical Allele Identifier: CA329483943
Gene: NDP HGNC NCBI

Linked Data

dbSNP Id: rs759738711
gnomAD v2: X-43808708-C-G
gnomAD v3: X-43949462-C-G
gnomAD v4: X-43949462-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949462C>G , CM000685.2:g.43949462C>G GRCh38
NC_000023.10:g.43808708C>G , CM000685.1:g.43808708C>G GRCh37
NC_000023.9:g.43693652C>G NCBI36
NG_009832.1:g.29214G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.*337G>C MANE Select ENSP00000495972.1:n.*337G>C
ENST00000647044.1:c.*337G>C ENSP00000495811.1:n.*337G>C
ENST00000378062.5:c.*337G>C ENSP00000367301.5:n.*337G>C
NM_000266.3:c.*337G>C NP_000257.1:n.*337G>C
NM_000266.4:c.*337G>C MANE Select NP_000257.1:n.*337G>C