Canonical Allele Identifier: CA492288377
Gene: HAPLN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.89424664C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88881433C>T , CM000677.2:g.88881433C>T GRCh38
NC_000015.9:g.89424664C>T , CM000677.1:g.89424664C>T GRCh37
NC_000015.8:g.87225668C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359595.8:c.417G>A MANE Select ENSP00000352606.4:p.Glu139=
ENST00000359595.7:c.417G>A ENSP00000352606.3:p.Glu139=
ENST00000558770.5:c.417G>A ENSP00000456458.1:p.Glu139=
ENST00000562281.1:c.417G>A ENSP00000456985.1:p.Glu139=
ENST00000562889.5:c.603G>A ENSP00000457180.1:p.Glu201=
ENST00000563808.1:n.519G>A
NM_001307952.1:c.603G>A NP_001294881.1:p.Glu201=
NM_178232.2:c.417G>A NP_839946.1:p.Glu139=
NM_178232.3:c.417G>A NP_839946.1:p.Glu139=
XM_011521261.1:c.549G>A XP_011519563.1:p.Glu183=
XR_243204.1:n.632G>A
XR_931756.1:n.738G>A
XM_017021934.2:c.603G>A XP_016877423.1:p.Glu201=
XM_017021935.2:c.38G>A XP_016877424.1:p.Arg13Lys
XM_017021936.2:c.38G>A XP_016877425.1:p.Arg13Lys
XR_001751098.2:n.750G>A
XR_931756.3:n.751G>A
NM_001307952.2:c.603G>A NP_001294881.1:p.Glu201=
NM_178232.4:c.417G>A MANE Select NP_839946.1:p.Glu139=