Canonical Allele Identifier: CA399479019

Gene: HAP1

Linked Data

• gnomAD v4: 17-41727125-T-C
• MyVariant Identifiers: chr17:g.39883377T>C (hg19) ; chr17:g.41727125T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41727125T>C , CM000679.2:g.41727125T>C	GRCh38
NC_000017.10:g.39883377T>C , CM000679.1:g.39883377T>C	GRCh37
NC_000017.9:g.37136903T>C	NCBI36
NG_009090.2:g.64588A>G , LRG_401:g.64588A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347901.9:c.1295A>G MANE Select	ENSP00000334002.4:p.Gln432Arg
ENST00000310778.5:c.1451A>G	ENSP00000309392.5:p.Gln484Arg
ENST00000341193.9:c.1244A>G	ENSP00000343170.5:p.Gln415Arg
ENST00000347901.8:c.1295A>G	ENSP00000334002.4:p.Gln432Arg
ENST00000393939.6:c.1220A>G	ENSP00000377513.2:p.Gln407Arg
NM_001079870.1:c.1244A>G	NP_001073339.1:p.Gln415Arg
NM_001079871.1:c.1220A>G	NP_001073340.1:p.Gln407Arg
NM_177977.2:c.1295A>G	NP_817084.2:p.Gln432Arg
NM_001367459.1:c.1391A>G	NP_001354388.1:p.Gln464Arg
NM_001367460.1:c.1355A>G	NP_001354389.1:p.Gln452Arg
NM_001367461.1:c.1220A>G	NP_001354390.1:p.Gln407Arg
NM_001367462.1:c.1220A>G	NP_001354391.1:p.Gln407Arg
NM_177977.3:c.1295A>G MANE Select	NP_817084.2:p.Gln432Arg