Canonical Allele Identifier: CA399478765

Gene: HAP1

Linked Data

• gnomAD v4: 17-41727078-A-G
• MyVariant Identifiers: chr17:g.39883330A>G (hg19) ; chr17:g.41727078A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41727078A>G , CM000679.2:g.41727078A>G	GRCh38
NC_000017.10:g.39883330A>G , CM000679.1:g.39883330A>G	GRCh37
NC_000017.9:g.37136856A>G	NCBI36
NG_009090.2:g.64635T>C , LRG_401:g.64635T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347901.9:c.1342T>C MANE Select	ENSP00000334002.4:p.Ser448Pro
ENST00000310778.5:c.1498T>C	ENSP00000309392.5:p.Ser500Pro
ENST00000341193.9:c.1291T>C	ENSP00000343170.5:p.Ser431Pro
ENST00000347901.8:c.1342T>C	ENSP00000334002.4:p.Ser448Pro
ENST00000393939.6:c.1267T>C	ENSP00000377513.2:p.Ser423Pro
NM_001079870.1:c.1291T>C	NP_001073339.1:p.Ser431Pro
NM_001079871.1:c.1267T>C	NP_001073340.1:p.Ser423Pro
NM_177977.2:c.1342T>C	NP_817084.2:p.Ser448Pro
NM_001367459.1:c.1438T>C	NP_001354388.1:p.Ser480Pro
NM_001367460.1:c.1402T>C	NP_001354389.1:p.Ser468Pro
NM_001367461.1:c.1267T>C	NP_001354390.1:p.Ser423Pro
NM_001367462.1:c.1267T>C	NP_001354391.1:p.Ser423Pro
NM_177977.3:c.1342T>C MANE Select	NP_817084.2:p.Ser448Pro