Canonical Allele Identifier: CA399478843

Gene: HAP1

Linked Data

• dbSNP Id: rs1911703423
• gnomAD v3: 17-41727092-A-C
• gnomAD v4: 17-41727092-A-C
• MyVariant Identifiers: chr17:g.39883344A>C (hg19) ; chr17:g.41727092A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41727092A>C , CM000679.2:g.41727092A>C	GRCh38
NC_000017.10:g.39883344A>C , CM000679.1:g.39883344A>C	GRCh37
NC_000017.9:g.37136870A>C	NCBI36
NG_009090.2:g.64621T>G , LRG_401:g.64621T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347901.9:c.1328T>G MANE Select	ENSP00000334002.4:p.Leu443Arg
ENST00000310778.5:c.1484T>G	ENSP00000309392.5:p.Leu495Arg
ENST00000341193.9:c.1277T>G	ENSP00000343170.5:p.Leu426Arg
ENST00000347901.8:c.1328T>G	ENSP00000334002.4:p.Leu443Arg
ENST00000393939.6:c.1253T>G	ENSP00000377513.2:p.Leu418Arg
NM_001079870.1:c.1277T>G	NP_001073339.1:p.Leu426Arg
NM_001079871.1:c.1253T>G	NP_001073340.1:p.Leu418Arg
NM_177977.2:c.1328T>G	NP_817084.2:p.Leu443Arg
NM_001367459.1:c.1424T>G	NP_001354388.1:p.Leu475Arg
NM_001367460.1:c.1388T>G	NP_001354389.1:p.Leu463Arg
NM_001367461.1:c.1253T>G	NP_001354390.1:p.Leu418Arg
NM_001367462.1:c.1253T>G	NP_001354391.1:p.Leu418Arg
NM_177977.3:c.1328T>G MANE Select	NP_817084.2:p.Leu443Arg