Canonical Allele Identifier: CA393733402
Gene: HAPLN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88881365T>C , CM000677.2:g.88881365T>C GRCh38
NC_000015.9:g.89424596T>C , CM000677.1:g.89424596T>C GRCh37
NC_000015.8:g.87225600T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359595.8:c.485A>G MANE Select ENSP00000352606.4:p.Glu162Gly
ENST00000359595.7:c.485A>G ENSP00000352606.3:p.Glu162Gly
ENST00000558770.5:c.485A>G ENSP00000456458.1:p.Glu162Gly
ENST00000562281.1:c.485A>G ENSP00000456985.1:p.Glu162Gly
ENST00000562889.5:c.671A>G ENSP00000457180.1:p.Glu224Gly
ENST00000563808.1:n.587A>G
NM_001307952.1:c.671A>G NP_001294881.1:p.Glu224Gly
NM_178232.2:c.485A>G NP_839946.1:p.Glu162Gly
NM_178232.3:c.485A>G NP_839946.1:p.Glu162Gly
XM_011521261.1:c.617A>G XP_011519563.1:p.Glu206Gly
XR_243204.1:n.700A>G
XR_931756.1:n.806A>G
XM_017021934.2:c.671A>G XP_016877423.1:p.Glu224Gly
XM_017021935.2:c.106A>G XP_016877424.1:p.Ser36Gly
XM_017021936.2:c.106A>G XP_016877425.1:p.Ser36Gly
XR_001751098.2:n.818A>G
XR_931756.3:n.819A>G
NM_001307952.2:c.671A>G NP_001294881.1:p.Glu224Gly
NM_178232.4:c.485A>G MANE Select NP_839946.1:p.Glu162Gly