Canonical Allele Identifier: CA516139148

Linked Data

dbSNP Id: rs1430065074
gnomAD v2: X-43808992-G-T
gnomAD v3: X-43949746-G-T
gnomAD v4: X-43949746-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949746G>T , CM000685.2:g.43949746G>T GRCh38
NC_000023.10:g.43808992G>T , CM000685.1:g.43808992G>T GRCh37
NC_000023.9:g.43693936G>T NCBI36
NG_009832.1:g.28930C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000642620.1:c.*53C>A (NDP) MANE Select ENSP00000495972.1:n.*53C>A
ENST00000647044.1:c.*53C>A (NDP) ENSP00000495811.1:n.*53C>A
ENST00000378062.5:c.*53C>A (NDP) ENSP00000367301.5:n.*53C>A
ENST00000470584.1:n.499C>A (NDP)
NM_000266.3:c.*53C>A (NDP) NP_000257.1:n.*53C>A
NR_046631.1:n.15G>T (NDP-AS1)
NM_000266.4:c.*53C>A (NDP) MANE Select NP_000257.1:n.*53C>A