Canonical Allele Identifier: CA492288385
Gene: HAPLN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.89424672G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88881441G>T , CM000677.2:g.88881441G>T GRCh38
NC_000015.9:g.89424672G>T , CM000677.1:g.89424672G>T GRCh37
NC_000015.8:g.87225676G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359595.8:c.409C>A MANE Select ENSP00000352606.4:p.Arg137=
ENST00000359595.7:c.409C>A ENSP00000352606.3:p.Arg137=
ENST00000558770.5:c.409C>A ENSP00000456458.1:p.Arg137=
ENST00000562281.1:c.409C>A ENSP00000456985.1:p.Arg137=
ENST00000562889.5:c.595C>A ENSP00000457180.1:p.Arg199=
ENST00000563808.1:n.511C>A
NM_001307952.1:c.595C>A NP_001294881.1:p.Arg199=
NM_178232.2:c.409C>A NP_839946.1:p.Arg137=
NM_178232.3:c.409C>A NP_839946.1:p.Arg137=
XM_011521261.1:c.541C>A XP_011519563.1:p.Arg181=
XR_243204.1:n.624C>A
XR_931756.1:n.730C>A
XM_017021934.2:c.595C>A XP_016877423.1:p.Arg199=
XM_017021935.2:c.30C>A XP_016877424.1:p.Cys10Ter
XM_017021936.2:c.30C>A XP_016877425.1:p.Cys10Ter
XR_001751098.2:n.742C>A
XR_931756.3:n.743C>A
NM_001307952.2:c.595C>A NP_001294881.1:p.Arg199=
NM_178232.4:c.409C>A MANE Select NP_839946.1:p.Arg137=