Canonical Allele Identifier: CA290680304
Gene: HAP1 HGNC NCBI

Linked Data

dbSNP Id: rs143945817

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41727077G>A , CM000679.2:g.41727077G>A GRCh38
NC_000017.10:g.39883329G>A , CM000679.1:g.39883329G>A GRCh37
NC_000017.9:g.37136855G>A NCBI36
NG_009090.2:g.64636C>T , LRG_401:g.64636C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000347901.9:c.1343C>T MANE Select ENSP00000334002.4:p.Ser448Leu
ENST00000310778.5:c.1499C>T ENSP00000309392.5:p.Ser500Leu
ENST00000341193.9:c.1292C>T ENSP00000343170.5:p.Ser431Leu
ENST00000347901.8:c.1343C>T ENSP00000334002.4:p.Ser448Leu
ENST00000393939.6:c.1268C>T ENSP00000377513.2:p.Ser423Leu
NM_001079870.1:c.1292C>T NP_001073339.1:p.Ser431Leu
NM_001079871.1:c.1268C>T NP_001073340.1:p.Ser423Leu
NM_177977.2:c.1343C>T NP_817084.2:p.Ser448Leu
NM_001367459.1:c.1439C>T NP_001354388.1:p.Ser480Leu
NM_001367460.1:c.1403C>T NP_001354389.1:p.Ser468Leu
NM_001367461.1:c.1268C>T NP_001354390.1:p.Ser423Leu
NM_001367462.1:c.1268C>T NP_001354391.1:p.Ser423Leu
NM_177977.3:c.1343C>T MANE Select NP_817084.2:p.Ser448Leu