Canonical Allele Identifier: CA8564391

Gene: HAP1

Linked Data

• dbSNP Id: rs367805108
• ExAC: 17:39883416 C / T
• gnomAD v2: 17-39883416-C-T
• gnomAD v3: 17-41727164-C-T
• gnomAD v4: 17-41727164-C-T
• MyVariant Identifiers: chr17:g.39883416C>T (hg19) ; chr17:g.41727164C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41727164C>T , CM000679.2:g.41727164C>T	GRCh38
NC_000017.10:g.39883416C>T , CM000679.1:g.39883416C>T	GRCh37
NC_000017.9:g.37136942C>T	NCBI36
NG_009090.2:g.64549G>A , LRG_401:g.64549G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347901.9:c.1276-20G>A MANE Select	ENSP00000334002.4:n.1276-20G>A
ENST00000310778.5:c.1432-20G>A	ENSP00000309392.5:n.1432-20G>A
ENST00000341193.9:c.1225-20G>A	ENSP00000343170.5:n.1225-20G>A
ENST00000347901.8:c.1276-20G>A	ENSP00000334002.4:n.1276-20G>A
ENST00000393939.6:c.1201-20G>A	ENSP00000377513.2:n.1201-20G>A
NM_001079870.1:c.1225-20G>A	NP_001073339.1:n.1225-20G>A
NM_001079871.1:c.1201-20G>A	NP_001073340.1:n.1201-20G>A
NM_177977.2:c.1276-20G>A	NP_817084.2:n.1276-20G>A
NM_001367459.1:c.1372-20G>A	NP_001354388.1:n.1372-20G>A
NM_001367460.1:c.1336-20G>A	NP_001354389.1:n.1336-20G>A
NM_001367461.1:c.1201-20G>A	NP_001354390.1:n.1201-20G>A
NM_001367462.1:c.1201-20G>A	NP_001354391.1:n.1201-20G>A
NM_177977.3:c.1276-20G>A MANE Select	NP_817084.2:n.1276-20G>A