Canonical Allele Identifier: CA2194346239

Gene: HAPLN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881545A= , CM000677.2:g.88881545A=	GRCh38
NC_000015.9:g.89424776A= , CM000677.1:g.89424776A=	GRCh37
NC_000015.8:g.87225780A=	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000359595.8:c.305T= MANE Select	ENSP00000352606.4:p.Leu102=
ENST00000359595.7:c.305T=	ENSP00000352606.3:p.Leu102=
ENST00000558770.5:c.305T=	ENSP00000456458.1:p.Leu102=
ENST00000562281.1:c.305T=	ENSP00000456985.1:p.Leu102=
ENST00000562889.5:c.491T=	ENSP00000457180.1:p.Leu164=
ENST00000563808.1:n.407T=
NM_001307952.1:c.491T=	NP_001294881.1:p.Leu164=
NM_178232.2:c.305T=	NP_839946.1:p.Leu102=
NM_178232.3:c.305T=	NP_839946.1:p.Leu102=
XM_011521261.1:c.437T=	XP_011519563.1:p.Leu146=
XR_243204.1:n.520T=
XR_931756.1:n.626T=
XM_017021934.2:c.491T=	XP_016877423.1:p.Leu164=
XM_017021935.2:c.-75T=	XP_016877424.1:n.-75T=
XM_017021936.2:c.-75T=	XP_016877425.1:n.-75T=
XR_001751098.2:n.638T=
XR_931756.3:n.639T=
NM_001307952.2:c.491T=	NP_001294881.1:p.Leu164=
NM_178232.4:c.305T= MANE Select	NP_839946.1:p.Leu102=