Canonical Allele Identifier: CA393733455
Gene: HAPLN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88881391C>A , CM000677.2:g.88881391C>A GRCh38
NC_000015.9:g.89424622C>A , CM000677.1:g.89424622C>A GRCh37
NC_000015.8:g.87225626C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359595.8:c.459G>T MANE Select ENSP00000352606.4:p.Glu153Asp
ENST00000359595.7:c.459G>T ENSP00000352606.3:p.Glu153Asp
ENST00000558770.5:c.459G>T ENSP00000456458.1:p.Glu153Asp
ENST00000562281.1:c.459G>T ENSP00000456985.1:p.Glu153Asp
ENST00000562889.5:c.645G>T ENSP00000457180.1:p.Glu215Asp
ENST00000563808.1:n.561G>T
NM_001307952.1:c.645G>T NP_001294881.1:p.Glu215Asp
NM_178232.2:c.459G>T NP_839946.1:p.Glu153Asp
NM_178232.3:c.459G>T NP_839946.1:p.Glu153Asp
XM_011521261.1:c.591G>T XP_011519563.1:p.Glu197Asp
XR_243204.1:n.674G>T
XR_931756.1:n.780G>T
XM_017021934.2:c.645G>T XP_016877423.1:p.Glu215Asp
XM_017021935.2:c.80G>T XP_016877424.1:p.Arg27Met
XM_017021936.2:c.80G>T XP_016877425.1:p.Arg27Met
XR_001751098.2:n.792G>T
XR_931756.3:n.793G>T
NM_001307952.2:c.645G>T NP_001294881.1:p.Glu215Asp
NM_178232.4:c.459G>T MANE Select NP_839946.1:p.Glu153Asp