Canonical Allele Identifier: CA393733586
Gene: HAPLN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88881455T>C , CM000677.2:g.88881455T>C GRCh38
NC_000015.9:g.89424686T>C , CM000677.1:g.89424686T>C GRCh37
NC_000015.8:g.87225690T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359595.8:c.395A>G MANE Select ENSP00000352606.4:p.Glu132Gly
ENST00000359595.7:c.395A>G ENSP00000352606.3:p.Glu132Gly
ENST00000558770.5:c.395A>G ENSP00000456458.1:p.Glu132Gly
ENST00000562281.1:c.395A>G ENSP00000456985.1:p.Glu132Gly
ENST00000562889.5:c.581A>G ENSP00000457180.1:p.Glu194Gly
ENST00000563808.1:n.497A>G
NM_001307952.1:c.581A>G NP_001294881.1:p.Glu194Gly
NM_178232.2:c.395A>G NP_839946.1:p.Glu132Gly
NM_178232.3:c.395A>G NP_839946.1:p.Glu132Gly
XM_011521261.1:c.527A>G XP_011519563.1:p.Glu176Gly
XR_243204.1:n.610A>G
XR_931756.1:n.716A>G
XM_017021934.2:c.581A>G XP_016877423.1:p.Glu194Gly
XM_017021935.2:c.16A>G XP_016877424.1:p.Arg6Gly
XM_017021936.2:c.16A>G XP_016877425.1:p.Arg6Gly
XR_001751098.2:n.728A>G
XR_931756.3:n.729A>G
NM_001307952.2:c.581A>G NP_001294881.1:p.Glu194Gly
NM_178232.4:c.395A>G MANE Select NP_839946.1:p.Glu132Gly