Canonical Allele Identifier: CA516139548

Linked Data

dbSNP Id: rs1340183743
gnomAD v2: X-43809263-G-A
gnomAD v4: X-43950017-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43950017G>A , CM000685.2:g.43950017G>A GRCh38
NC_000023.10:g.43809263G>A , CM000685.1:g.43809263G>A GRCh37
NC_000023.9:g.43694207G>A NCBI36
NG_009832.1:g.28659C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.184C>T (NDP) MANE Select ENSP00000495972.1:p.Leu62=
ENST00000647044.1:c.184C>T (NDP) ENSP00000495811.1:p.Leu62=
ENST00000378062.5:c.184C>T (NDP) ENSP00000367301.5:p.Leu62=
ENST00000470584.1:n.228C>T (NDP)
NM_000266.3:c.184C>T (NDP) NP_000257.1:p.Leu62=
NR_046631.1:n.286G>A (NDP-AS1)
NM_000266.4:c.184C>T (NDP) MANE Select NP_000257.1:p.Leu62=