Canonical Allele Identifier: CA413007315

Linked Data

gnomAD v4: X-43949837-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949837A>G , CM000685.2:g.43949837A>G GRCh38
NC_000023.10:g.43809083A>G , CM000685.1:g.43809083A>G GRCh37
NC_000023.9:g.43694027A>G NCBI36
NG_009832.1:g.28839T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.364T>C (NDP) MANE Select ENSP00000495972.1:p.Tyr122His
ENST00000647044.1:c.364T>C (NDP) ENSP00000495811.1:p.Tyr122His
ENST00000378062.5:c.364T>C (NDP) ENSP00000367301.5:p.Tyr122His
ENST00000470584.1:n.408T>C (NDP)
NM_000266.3:c.364T>C (NDP) NP_000257.1:p.Tyr122His
NR_046631.1:n.106A>G (NDP-AS1)
NM_000266.4:c.364T>C (NDP) MANE Select NP_000257.1:p.Tyr122His