Canonical Allele Identifier: CA516139285

Linked Data

dbSNP Id: rs73475744
gnomAD v2: X-43809031-C-A
gnomAD v3: X-43949785-C-A
gnomAD v4: X-43949785-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949785C>A , CM000685.2:g.43949785C>A GRCh38
NC_000023.10:g.43809031C>A , CM000685.1:g.43809031C>A GRCh37
NC_000023.9:g.43693975C>A NCBI36
NG_009832.1:g.28891G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000642620.1:c.*14G>T (NDP) MANE Select ENSP00000495972.1:n.*14G>T
ENST00000647044.1:c.*14G>T (NDP) ENSP00000495811.1:n.*14G>T
ENST00000378062.5:c.*14G>T (NDP) ENSP00000367301.5:n.*14G>T
ENST00000470584.1:n.460G>T (NDP)
NM_000266.3:c.*14G>T (NDP) NP_000257.1:n.*14G>T
NR_046631.1:n.54C>A (NDP-AS1)
NM_000266.4:c.*14G>T (NDP) MANE Select NP_000257.1:n.*14G>T