Canonical Allele Identifier: CA2576268466

Gene: HAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41727180C>A , CM000679.2:g.41727180C>A	GRCh38
NC_000017.10:g.39883432C>A , CM000679.1:g.39883432C>A	GRCh37
NC_000017.9:g.37136958C>A	NCBI36
NG_009090.2:g.64533G>T , LRG_401:g.64533G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347901.9:c.1276-36G>T MANE Select	ENSP00000334002.4:n.1276-36G>T
ENST00000310778.5:c.1432-36G>T	ENSP00000309392.5:n.1432-36G>T
ENST00000341193.9:c.1225-36G>T	ENSP00000343170.5:n.1225-36G>T
ENST00000347901.8:c.1276-36G>T	ENSP00000334002.4:n.1276-36G>T
ENST00000393939.6:c.1201-36G>T	ENSP00000377513.2:n.1201-36G>T
NM_001079870.1:c.1225-36G>T	NP_001073339.1:n.1225-36G>T
NM_001079871.1:c.1201-36G>T	NP_001073340.1:n.1201-36G>T
NM_177977.2:c.1276-36G>T	NP_817084.2:n.1276-36G>T
NM_001367459.1:c.1372-36G>T	NP_001354388.1:n.1372-36G>T
NM_001367460.1:c.1336-36G>T	NP_001354389.1:n.1336-36G>T
NM_001367461.1:c.1201-36G>T	NP_001354390.1:n.1201-36G>T
NM_001367462.1:c.1201-36G>T	NP_001354391.1:n.1201-36G>T
NM_177977.3:c.1276-36G>T MANE Select	NP_817084.2:n.1276-36G>T