Canonical Allele Identifier: CA393733436
Gene: HAPLN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88881383C>T , CM000677.2:g.88881383C>T GRCh38
NC_000015.9:g.89424614C>T , CM000677.1:g.89424614C>T GRCh37
NC_000015.8:g.87225618C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359595.8:c.467G>A MANE Select ENSP00000352606.4:p.Ser156Asn
ENST00000359595.7:c.467G>A ENSP00000352606.3:p.Ser156Asn
ENST00000558770.5:c.467G>A ENSP00000456458.1:p.Ser156Asn
ENST00000562281.1:c.467G>A ENSP00000456985.1:p.Ser156Asn
ENST00000562889.5:c.653G>A ENSP00000457180.1:p.Ser218Asn
ENST00000563808.1:n.569G>A
NM_001307952.1:c.653G>A NP_001294881.1:p.Ser218Asn
NM_178232.2:c.467G>A NP_839946.1:p.Ser156Asn
NM_178232.3:c.467G>A NP_839946.1:p.Ser156Asn
XM_011521261.1:c.599G>A XP_011519563.1:p.Ser200Asn
XR_243204.1:n.682G>A
XR_931756.1:n.788G>A
XM_017021934.2:c.653G>A XP_016877423.1:p.Ser218Asn
XM_017021935.2:c.88G>A XP_016877424.1:p.Ala30Thr
XM_017021936.2:c.88G>A XP_016877425.1:p.Ala30Thr
XR_001751098.2:n.800G>A
XR_931756.3:n.801G>A
NM_001307952.2:c.653G>A NP_001294881.1:p.Ser218Asn
NM_178232.4:c.467G>A MANE Select NP_839946.1:p.Ser156Asn