Canonical Allele Identifier: CA10391398

Linked Data

ClinVar Variation Id: 588627
dbSNP Id: rs73475744
gnomAD v2: X-43809031-C-T
gnomAD v3: X-43949785-C-T
gnomAD v4: X-43949785-C-T

Genomic Alleles

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

Transcript Alleles

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