Canonical Allele Identifier: CA393734013
Gene: HAPLN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88881671G>T , CM000677.2:g.88881671G>T GRCh38
NC_000015.9:g.89424902G>T , CM000677.1:g.89424902G>T GRCh37
NC_000015.8:g.87225906G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359595.8:c.179C>A MANE Select ENSP00000352606.4:p.Thr60Asn
ENST00000359595.7:c.179C>A ENSP00000352606.3:p.Thr60Asn
ENST00000558770.5:c.179C>A ENSP00000456458.1:p.Thr60Asn
ENST00000562281.1:c.179C>A ENSP00000456985.1:p.Thr60Asn
ENST00000562889.5:c.365C>A ENSP00000457180.1:p.Thr122Asn
ENST00000563808.1:n.281C>A
NM_001307952.1:c.365C>A NP_001294881.1:p.Thr122Asn
NM_178232.2:c.179C>A NP_839946.1:p.Thr60Asn
NM_178232.3:c.179C>A NP_839946.1:p.Thr60Asn
XM_011521261.1:c.311C>A XP_011519563.1:p.Thr104Asn
XR_243204.1:n.394C>A
XR_931756.1:n.500C>A
XM_017021934.2:c.365C>A XP_016877423.1:p.Thr122Asn
XM_017021935.2:c.-201C>A XP_016877424.1:n.-201C>A
XM_017021936.2:c.-201C>A XP_016877425.1:n.-201C>A
XR_001751098.2:n.512C>A
XR_931756.3:n.513C>A
NM_001307952.2:c.365C>A NP_001294881.1:p.Thr122Asn
NM_178232.4:c.179C>A MANE Select NP_839946.1:p.Thr60Asn