Canonical Allele Identifier: CA393734123
Gene: HAPLN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88881724G>C , CM000677.2:g.88881724G>C GRCh38
NC_000015.9:g.89424955G>C , CM000677.1:g.89424955G>C GRCh37
NC_000015.8:g.87225959G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359595.8:c.126C>G MANE Select ENSP00000352606.4:p.Asp42Glu
ENST00000359595.7:c.126C>G ENSP00000352606.3:p.Asp42Glu
ENST00000558770.5:c.126C>G ENSP00000456458.1:p.Asp42Glu
ENST00000562281.1:c.126C>G ENSP00000456985.1:p.Asp42Glu
ENST00000562889.5:c.312C>G ENSP00000457180.1:p.Asp104Glu
ENST00000563808.1:n.228C>G
NM_001307952.1:c.312C>G NP_001294881.1:p.Asp104Glu
NM_178232.2:c.126C>G NP_839946.1:p.Asp42Glu
NM_178232.3:c.126C>G NP_839946.1:p.Asp42Glu
XM_011521261.1:c.258C>G XP_011519563.1:p.Asp86Glu
XR_243204.1:n.341C>G
XR_931756.1:n.447C>G
XM_017021934.2:c.312C>G XP_016877423.1:p.Asp104Glu
XM_017021935.2:c.-254C>G XP_016877424.1:n.-254C>G
XM_017021936.2:c.-254C>G XP_016877425.1:n.-254C>G
XR_001751098.2:n.459C>G
XR_931756.3:n.460C>G
NM_001307952.2:c.312C>G NP_001294881.1:p.Asp104Glu
NM_178232.4:c.126C>G MANE Select NP_839946.1:p.Asp42Glu