Canonical Allele Identifier: CA393733462
Gene: HAPLN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88881393C>A , CM000677.2:g.88881393C>A GRCh38
NC_000015.9:g.89424624C>A , CM000677.1:g.89424624C>A GRCh37
NC_000015.8:g.87225628C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359595.8:c.457G>T MANE Select ENSP00000352606.4:p.Glu153Ter
ENST00000359595.7:c.457G>T ENSP00000352606.3:p.Glu153Ter
ENST00000558770.5:c.457G>T ENSP00000456458.1:p.Glu153Ter
ENST00000562281.1:c.457G>T ENSP00000456985.1:p.Glu153Ter
ENST00000562889.5:c.643G>T ENSP00000457180.1:p.Glu215Ter
ENST00000563808.1:n.559G>T
NM_001307952.1:c.643G>T NP_001294881.1:p.Glu215Ter
NM_178232.2:c.457G>T NP_839946.1:p.Glu153Ter
NM_178232.3:c.457G>T NP_839946.1:p.Glu153Ter
XM_011521261.1:c.589G>T XP_011519563.1:p.Glu197Ter
XR_243204.1:n.672G>T
XR_931756.1:n.778G>T
XM_017021934.2:c.643G>T XP_016877423.1:p.Glu215Ter
XM_017021935.2:c.78G>T XP_016877424.1:p.Trp26Cys
XM_017021936.2:c.78G>T XP_016877425.1:p.Trp26Cys
XR_001751098.2:n.790G>T
XR_931756.3:n.791G>T
NM_001307952.2:c.643G>T NP_001294881.1:p.Glu215Ter
NM_178232.4:c.457G>T MANE Select NP_839946.1:p.Glu153Ter