Canonical Allele Identifier: CA393733797
Gene: HAPLN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88881558C>T , CM000677.2:g.88881558C>T GRCh38
NC_000015.9:g.89424789C>T , CM000677.1:g.89424789C>T GRCh37
NC_000015.8:g.87225793C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359595.8:c.292G>A MANE Select ENSP00000352606.4:p.Glu98Lys
ENST00000359595.7:c.292G>A ENSP00000352606.3:p.Glu98Lys
ENST00000558770.5:c.292G>A ENSP00000456458.1:p.Glu98Lys
ENST00000562281.1:c.292G>A ENSP00000456985.1:p.Glu98Lys
ENST00000562889.5:c.478G>A ENSP00000457180.1:p.Glu160Lys
ENST00000563808.1:n.394G>A
NM_001307952.1:c.478G>A NP_001294881.1:p.Glu160Lys
NM_178232.2:c.292G>A NP_839946.1:p.Glu98Lys
NM_178232.3:c.292G>A NP_839946.1:p.Glu98Lys
XM_011521261.1:c.424G>A XP_011519563.1:p.Glu142Lys
XR_243204.1:n.507G>A
XR_931756.1:n.613G>A
XM_017021934.2:c.478G>A XP_016877423.1:p.Glu160Lys
XM_017021935.2:c.-88G>A XP_016877424.1:n.-88G>A
XM_017021936.2:c.-88G>A XP_016877425.1:n.-88G>A
XR_001751098.2:n.625G>A
XR_931756.3:n.626G>A
NM_001307952.2:c.478G>A NP_001294881.1:p.Glu160Lys
NM_178232.4:c.292G>A MANE Select NP_839946.1:p.Glu98Lys