Canonical Allele Identifier: CA393733798
Gene: HAPLN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88881560G>A , CM000677.2:g.88881560G>A GRCh38
NC_000015.9:g.89424791G>A , CM000677.1:g.89424791G>A GRCh37
NC_000015.8:g.87225795G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359595.8:c.290C>T MANE Select ENSP00000352606.4:p.Pro97Leu
ENST00000359595.7:c.290C>T ENSP00000352606.3:p.Pro97Leu
ENST00000558770.5:c.290C>T ENSP00000456458.1:p.Pro97Leu
ENST00000562281.1:c.290C>T ENSP00000456985.1:p.Pro97Leu
ENST00000562889.5:c.476C>T ENSP00000457180.1:p.Pro159Leu
ENST00000563808.1:n.392C>T
NM_001307952.1:c.476C>T NP_001294881.1:p.Pro159Leu
NM_178232.2:c.290C>T NP_839946.1:p.Pro97Leu
NM_178232.3:c.290C>T NP_839946.1:p.Pro97Leu
XM_011521261.1:c.422C>T XP_011519563.1:p.Pro141Leu
XR_243204.1:n.505C>T
XR_931756.1:n.611C>T
XM_017021934.2:c.476C>T XP_016877423.1:p.Pro159Leu
XM_017021935.2:c.-90C>T XP_016877424.1:n.-90C>T
XM_017021936.2:c.-90C>T XP_016877425.1:n.-90C>T
XR_001751098.2:n.623C>T
XR_931756.3:n.624C>T
NM_001307952.2:c.476C>T NP_001294881.1:p.Pro159Leu
NM_178232.4:c.290C>T MANE Select NP_839946.1:p.Pro97Leu