Canonical Allele Identifier: CA393734059
Gene: HAPLN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88881693T>C , CM000677.2:g.88881693T>C GRCh38
NC_000015.9:g.89424924T>C , CM000677.1:g.89424924T>C GRCh37
NC_000015.8:g.87225928T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359595.8:c.157A>G MANE Select ENSP00000352606.4:p.Thr53Ala
ENST00000359595.7:c.157A>G ENSP00000352606.3:p.Thr53Ala
ENST00000558770.5:c.157A>G ENSP00000456458.1:p.Thr53Ala
ENST00000562281.1:c.157A>G ENSP00000456985.1:p.Thr53Ala
ENST00000562889.5:c.343A>G ENSP00000457180.1:p.Thr115Ala
ENST00000563808.1:n.259A>G
NM_001307952.1:c.343A>G NP_001294881.1:p.Thr115Ala
NM_178232.2:c.157A>G NP_839946.1:p.Thr53Ala
NM_178232.3:c.157A>G NP_839946.1:p.Thr53Ala
XM_011521261.1:c.289A>G XP_011519563.1:p.Thr97Ala
XR_243204.1:n.372A>G
XR_931756.1:n.478A>G
XM_017021934.2:c.343A>G XP_016877423.1:p.Thr115Ala
XM_017021935.2:c.-223A>G XP_016877424.1:n.-223A>G
XM_017021936.2:c.-223A>G XP_016877425.1:n.-223A>G
XR_001751098.2:n.490A>G
XR_931756.3:n.491A>G
NM_001307952.2:c.343A>G NP_001294881.1:p.Thr115Ala
NM_178232.4:c.157A>G MANE Select NP_839946.1:p.Thr53Ala