Canonical Allele Identifier: CA399478919

Gene: HAP1

Linked Data

• MyVariant Identifiers: chr17:g.39883353C>G (hg19) ; chr17:g.41727101C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41727101C>G , CM000679.2:g.41727101C>G	GRCh38
NC_000017.10:g.39883353C>G , CM000679.1:g.39883353C>G	GRCh37
NC_000017.9:g.37136879C>G	NCBI36
NG_009090.2:g.64612G>C , LRG_401:g.64612G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347901.9:c.1319G>C MANE Select	ENSP00000334002.4:p.Arg440Thr
ENST00000310778.5:c.1475G>C	ENSP00000309392.5:p.Arg492Thr
ENST00000341193.9:c.1268G>C	ENSP00000343170.5:p.Arg423Thr
ENST00000347901.8:c.1319G>C	ENSP00000334002.4:p.Arg440Thr
ENST00000393939.6:c.1244G>C	ENSP00000377513.2:p.Arg415Thr
NM_001079870.1:c.1268G>C	NP_001073339.1:p.Arg423Thr
NM_001079871.1:c.1244G>C	NP_001073340.1:p.Arg415Thr
NM_177977.2:c.1319G>C	NP_817084.2:p.Arg440Thr
NM_001367459.1:c.1415G>C	NP_001354388.1:p.Arg472Thr
NM_001367460.1:c.1379G>C	NP_001354389.1:p.Arg460Thr
NM_001367461.1:c.1244G>C	NP_001354390.1:p.Arg415Thr
NM_001367462.1:c.1244G>C	NP_001354391.1:p.Arg415Thr
NM_177977.3:c.1319G>C MANE Select	NP_817084.2:p.Arg440Thr