Canonical Allele Identifier: CA2194346060

Gene: HAPLN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881458A= , CM000677.2:g.88881458A=	GRCh38
NC_000015.9:g.89424689A= , CM000677.1:g.89424689A=	GRCh37
NC_000015.8:g.87225693A=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.392T= MANE Select	ENSP00000352606.4:p.Leu131=
ENST00000359595.7:c.392T=	ENSP00000352606.3:p.Leu131=
ENST00000558770.5:c.392T=	ENSP00000456458.1:p.Leu131=
ENST00000562281.1:c.392T=	ENSP00000456985.1:p.Leu131=
ENST00000562889.5:c.578T=	ENSP00000457180.1:p.Leu193=
ENST00000563808.1:n.494T=
NM_001307952.1:c.578T=	NP_001294881.1:p.Leu193=
NM_178232.2:c.392T=	NP_839946.1:p.Leu131=
NM_178232.3:c.392T=	NP_839946.1:p.Leu131=
XM_011521261.1:c.524T=	XP_011519563.1:p.Leu175=
XR_243204.1:n.607T=
XR_931756.1:n.713T=
XM_017021934.2:c.578T=	XP_016877423.1:p.Leu193=
XM_017021935.2:c.13T=	XP_016877424.1:p.Trp5=
XM_017021936.2:c.13T=	XP_016877425.1:p.Trp5=
XR_001751098.2:n.725T=
XR_931756.3:n.726T=
NM_001307952.2:c.578T=	NP_001294881.1:p.Leu193=
NM_178232.4:c.392T= MANE Select	NP_839946.1:p.Leu131=