Canonical Allele Identifier: CA399479081

Gene: HAP1

Linked Data

• gnomAD v4: 17-41727137-A-T
• MyVariant Identifiers: chr17:g.39883389A>T (hg19) ; chr17:g.41727137A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41727137A>T , CM000679.2:g.41727137A>T	GRCh38
NC_000017.10:g.39883389A>T , CM000679.1:g.39883389A>T	GRCh37
NC_000017.9:g.37136915A>T	NCBI36
NG_009090.2:g.64576T>A , LRG_401:g.64576T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347901.9:c.1283T>A MANE Select	ENSP00000334002.4:p.Leu428His
ENST00000310778.5:c.1439T>A	ENSP00000309392.5:p.Leu480His
ENST00000341193.9:c.1232T>A	ENSP00000343170.5:p.Leu411His
ENST00000347901.8:c.1283T>A	ENSP00000334002.4:p.Leu428His
ENST00000393939.6:c.1208T>A	ENSP00000377513.2:p.Leu403His
NM_001079870.1:c.1232T>A	NP_001073339.1:p.Leu411His
NM_001079871.1:c.1208T>A	NP_001073340.1:p.Leu403His
NM_177977.2:c.1283T>A	NP_817084.2:p.Leu428His
NM_001367459.1:c.1379T>A	NP_001354388.1:p.Leu460His
NM_001367460.1:c.1343T>A	NP_001354389.1:p.Leu448His
NM_001367461.1:c.1208T>A	NP_001354390.1:p.Leu403His
NM_001367462.1:c.1208T>A	NP_001354391.1:p.Leu403His
NM_177977.3:c.1283T>A MANE Select	NP_817084.2:p.Leu428His