Canonical Allele Identifier: CA492288382
Gene: HAPLN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.89424670C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88881439C>A , CM000677.2:g.88881439C>A GRCh38
NC_000015.9:g.89424670C>A , CM000677.1:g.89424670C>A GRCh37
NC_000015.8:g.87225674C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359595.8:c.411G>T MANE Select ENSP00000352606.4:p.Arg137=
ENST00000359595.7:c.411G>T ENSP00000352606.3:p.Arg137=
ENST00000558770.5:c.411G>T ENSP00000456458.1:p.Arg137=
ENST00000562281.1:c.411G>T ENSP00000456985.1:p.Arg137=
ENST00000562889.5:c.597G>T ENSP00000457180.1:p.Arg199=
ENST00000563808.1:n.513G>T
NM_001307952.1:c.597G>T NP_001294881.1:p.Arg199=
NM_178232.2:c.411G>T NP_839946.1:p.Arg137=
NM_178232.3:c.411G>T NP_839946.1:p.Arg137=
XM_011521261.1:c.543G>T XP_011519563.1:p.Arg181=
XR_243204.1:n.626G>T
XR_931756.1:n.732G>T
XM_017021934.2:c.597G>T XP_016877423.1:p.Arg199=
XM_017021935.2:c.32G>T XP_016877424.1:p.Gly11Val
XM_017021936.2:c.32G>T XP_016877425.1:p.Gly11Val
XR_001751098.2:n.744G>T
XR_931756.3:n.745G>T
NM_001307952.2:c.597G>T NP_001294881.1:p.Arg199=
NM_178232.4:c.411G>T MANE Select NP_839946.1:p.Arg137=