Canonical Allele Identifier: CA393733442
Gene: HAPLN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88881386T>A , CM000677.2:g.88881386T>A GRCh38
NC_000015.9:g.89424617T>A , CM000677.1:g.89424617T>A GRCh37
NC_000015.8:g.87225621T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359595.8:c.464A>T MANE Select ENSP00000352606.4:p.Glu155Val
ENST00000359595.7:c.464A>T ENSP00000352606.3:p.Glu155Val
ENST00000558770.5:c.464A>T ENSP00000456458.1:p.Glu155Val
ENST00000562281.1:c.464A>T ENSP00000456985.1:p.Glu155Val
ENST00000562889.5:c.650A>T ENSP00000457180.1:p.Glu217Val
ENST00000563808.1:n.566A>T
NM_001307952.1:c.650A>T NP_001294881.1:p.Glu217Val
NM_178232.2:c.464A>T NP_839946.1:p.Glu155Val
NM_178232.3:c.464A>T NP_839946.1:p.Glu155Val
XM_011521261.1:c.596A>T XP_011519563.1:p.Glu199Val
XR_243204.1:n.679A>T
XR_931756.1:n.785A>T
XM_017021934.2:c.650A>T XP_016877423.1:p.Glu217Val
XM_017021935.2:c.85A>T XP_016877424.1:p.Lys29Ter
XM_017021936.2:c.85A>T XP_016877425.1:p.Lys29Ter
XR_001751098.2:n.797A>T
XR_931756.3:n.798A>T
NM_001307952.2:c.650A>T NP_001294881.1:p.Glu217Val
NM_178232.4:c.464A>T MANE Select NP_839946.1:p.Glu155Val