Canonical Allele Identifier: CA2194346059

Gene: HAPLN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881457C= , CM000677.2:g.88881457C=	GRCh38
NC_000015.9:g.89424688C= , CM000677.1:g.89424688C=	GRCh37
NC_000015.8:g.87225692C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.393G= MANE Select	ENSP00000352606.4:p.Leu131=
ENST00000359595.7:c.393G=	ENSP00000352606.3:p.Leu131=
ENST00000558770.5:c.393G=	ENSP00000456458.1:p.Leu131=
ENST00000562281.1:c.393G=	ENSP00000456985.1:p.Leu131=
ENST00000562889.5:c.579G=	ENSP00000457180.1:p.Leu193=
ENST00000563808.1:n.495G=
NM_001307952.1:c.579G=	NP_001294881.1:p.Leu193=
NM_178232.2:c.393G=	NP_839946.1:p.Leu131=
NM_178232.3:c.393G=	NP_839946.1:p.Leu131=
XM_011521261.1:c.525G=	XP_011519563.1:p.Leu175=
XR_243204.1:n.608G=
XR_931756.1:n.714G=
XM_017021934.2:c.579G=	XP_016877423.1:p.Leu193=
XM_017021935.2:c.14G=	XP_016877424.1:p.Trp5=
XM_017021936.2:c.14G=	XP_016877425.1:p.Trp5=
XR_001751098.2:n.726G=
XR_931756.3:n.727G=
NM_001307952.2:c.579G=	NP_001294881.1:p.Leu193=
NM_178232.4:c.393G= MANE Select	NP_839946.1:p.Leu131=