Canonical Allele Identifier: CA393733421
Gene: HAPLN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88881374A>T , CM000677.2:g.88881374A>T GRCh38
NC_000015.9:g.89424605A>T , CM000677.1:g.89424605A>T GRCh37
NC_000015.8:g.87225609A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359595.8:c.476T>A MANE Select ENSP00000352606.4:p.Val159Glu
ENST00000359595.7:c.476T>A ENSP00000352606.3:p.Val159Glu
ENST00000558770.5:c.476T>A ENSP00000456458.1:p.Val159Glu
ENST00000562281.1:c.476T>A ENSP00000456985.1:p.Val159Glu
ENST00000562889.5:c.662T>A ENSP00000457180.1:p.Val221Glu
ENST00000563808.1:n.578T>A
NM_001307952.1:c.662T>A NP_001294881.1:p.Val221Glu
NM_178232.2:c.476T>A NP_839946.1:p.Val159Glu
NM_178232.3:c.476T>A NP_839946.1:p.Val159Glu
XM_011521261.1:c.608T>A XP_011519563.1:p.Val203Glu
XR_243204.1:n.691T>A
XR_931756.1:n.797T>A
XM_017021934.2:c.662T>A XP_016877423.1:p.Val221Glu
XM_017021935.2:c.97T>A XP_016877424.1:p.Trp33Arg
XM_017021936.2:c.97T>A XP_016877425.1:p.Trp33Arg
XR_001751098.2:n.809T>A
XR_931756.3:n.810T>A
NM_001307952.2:c.662T>A NP_001294881.1:p.Val221Glu
NM_178232.4:c.476T>A MANE Select NP_839946.1:p.Val159Glu