Canonical Allele Identifier: CA2194345992

Gene: HAPLN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881434T= , CM000677.2:g.88881434T=	GRCh38
NC_000015.9:g.89424665T= , CM000677.1:g.89424665T=	GRCh37
NC_000015.8:g.87225669T=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.416A= MANE Select	ENSP00000352606.4:p.Glu139=
ENST00000359595.7:c.416A=	ENSP00000352606.3:p.Glu139=
ENST00000558770.5:c.416A=	ENSP00000456458.1:p.Glu139=
ENST00000562281.1:c.416A=	ENSP00000456985.1:p.Glu139=
ENST00000562889.5:c.602A=	ENSP00000457180.1:p.Glu201=
ENST00000563808.1:n.518A=
NM_001307952.1:c.602A=	NP_001294881.1:p.Glu201=
NM_178232.2:c.416A=	NP_839946.1:p.Glu139=
NM_178232.3:c.416A=	NP_839946.1:p.Glu139=
XM_011521261.1:c.548A=	XP_011519563.1:p.Glu183=
XR_243204.1:n.631A=
XR_931756.1:n.737A=
XM_017021934.2:c.602A=	XP_016877423.1:p.Glu201=
XM_017021935.2:c.37A=	XP_016877424.1:p.Arg13=
XM_017021936.2:c.37A=	XP_016877425.1:p.Arg13=
XR_001751098.2:n.749A=
XR_931756.3:n.750A=
NM_001307952.2:c.602A=	NP_001294881.1:p.Glu201=
NM_178232.4:c.416A= MANE Select	NP_839946.1:p.Glu139=