Canonical Allele Identifier: CA500010311

Gene: HAP1

Linked Data

• dbSNP Id: rs1356388513
• gnomAD v4: 17-41727079-G-T
• MyVariant Identifiers: chr17:g.39883331G>T (hg19) ; chr17:g.41727079G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41727079G>T , CM000679.2:g.41727079G>T	GRCh38
NC_000017.10:g.39883331G>T , CM000679.1:g.39883331G>T	GRCh37
NC_000017.9:g.37136857G>T	NCBI36
NG_009090.2:g.64634C>A , LRG_401:g.64634C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347901.9:c.1341C>A MANE Select	ENSP00000334002.4:p.Ile447=
ENST00000310778.5:c.1497C>A	ENSP00000309392.5:p.Ile499=
ENST00000341193.9:c.1290C>A	ENSP00000343170.5:p.Ile430=
ENST00000347901.8:c.1341C>A	ENSP00000334002.4:p.Ile447=
ENST00000393939.6:c.1266C>A	ENSP00000377513.2:p.Ile422=
NM_001079870.1:c.1290C>A	NP_001073339.1:p.Ile430=
NM_001079871.1:c.1266C>A	NP_001073340.1:p.Ile422=
NM_177977.2:c.1341C>A	NP_817084.2:p.Ile447=
NM_001367459.1:c.1437C>A	NP_001354388.1:p.Ile479=
NM_001367460.1:c.1401C>A	NP_001354389.1:p.Ile467=
NM_001367461.1:c.1266C>A	NP_001354390.1:p.Ile422=
NM_001367462.1:c.1266C>A	NP_001354391.1:p.Ile422=
NM_177977.3:c.1341C>A MANE Select	NP_817084.2:p.Ile447=