Canonical Allele Identifier: CA516139118

Linked Data

dbSNP Id: rs1409016284
gnomAD v3: X-43949736-T-C
gnomAD v4: X-43949736-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949736T>C , CM000685.2:g.43949736T>C GRCh38
NC_000023.10:g.43808982T>C , CM000685.1:g.43808982T>C GRCh37
NC_000023.9:g.43693926T>C NCBI36
NG_009832.1:g.28940A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000642620.1:c.*63A>G (NDP) MANE Select ENSP00000495972.1:n.*63A>G
ENST00000647044.1:c.*63A>G (NDP) ENSP00000495811.1:n.*63A>G
ENST00000378062.5:c.*63A>G (NDP) ENSP00000367301.5:n.*63A>G
ENST00000470584.1:n.509A>G (NDP)
NM_000266.3:c.*63A>G (NDP) NP_000257.1:n.*63A>G
NR_046631.1:n.5T>C (NDP-AS1)
NM_000266.4:c.*63A>G (NDP) MANE Select NP_000257.1:n.*63A>G