Canonical Allele Identifier: CA516139515

Linked Data

dbSNP Id: rs1265725676
gnomAD v2: X-43809215-A-G
gnomAD v4: X-43949969-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949969A>G , CM000685.2:g.43949969A>G GRCh38
NC_000023.10:g.43809215A>G , CM000685.1:g.43809215A>G GRCh37
NC_000023.9:g.43694159A>G NCBI36
NG_009832.1:g.28707T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000642620.1:c.232T>C (NDP) MANE Select ENSP00000495972.1:p.Leu78=
ENST00000647044.1:c.232T>C (NDP) ENSP00000495811.1:p.Leu78=
ENST00000378062.5:c.232T>C (NDP) ENSP00000367301.5:p.Leu78=
ENST00000470584.1:n.276T>C (NDP)
NM_000266.3:c.232T>C (NDP) NP_000257.1:p.Leu78=
NR_046631.1:n.238A>G (NDP-AS1)
NM_000266.4:c.232T>C (NDP) MANE Select NP_000257.1:p.Leu78=