Canonical Allele Identifier: CA2194346518

Gene: HAPLN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881643G= , CM000677.2:g.88881643G=	GRCh38
NC_000015.9:g.89424874G= , CM000677.1:g.89424874G=	GRCh37
NC_000015.8:g.87225878G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.207C= MANE Select	ENSP00000352606.4:p.Pro69=
ENST00000359595.7:c.207C=	ENSP00000352606.3:p.Pro69=
ENST00000558770.5:c.207C=	ENSP00000456458.1:p.Pro69=
ENST00000562281.1:c.207C=	ENSP00000456985.1:p.Pro69=
ENST00000562889.5:c.393C=	ENSP00000457180.1:p.Pro131=
ENST00000563808.1:n.309C=
NM_001307952.1:c.393C=	NP_001294881.1:p.Pro131=
NM_178232.2:c.207C=	NP_839946.1:p.Pro69=
NM_178232.3:c.207C=	NP_839946.1:p.Pro69=
XM_011521261.1:c.339C=	XP_011519563.1:p.Pro113=
XR_243204.1:n.422C=
XR_931756.1:n.528C=
XM_017021934.2:c.393C=	XP_016877423.1:p.Pro131=
XM_017021935.2:c.-173C=	XP_016877424.1:n.-173C=
XM_017021936.2:c.-173C=	XP_016877425.1:n.-173C=
XR_001751098.2:n.540C=
XR_931756.3:n.541C=
NM_001307952.2:c.393C=	NP_001294881.1:p.Pro131=
NM_178232.4:c.207C= MANE Select	NP_839946.1:p.Pro69=