Canonical Allele Identifier: CA2194346709

Gene: HAPLN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881721G= , CM000677.2:g.88881721G=	GRCh38
NC_000015.9:g.89424952G= , CM000677.1:g.89424952G=	GRCh37
NC_000015.8:g.87225956G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.129C= MANE Select	ENSP00000352606.4:p.Leu43=
ENST00000359595.7:c.129C=	ENSP00000352606.3:p.Leu43=
ENST00000558770.5:c.129C=	ENSP00000456458.1:p.Leu43=
ENST00000562281.1:c.129C=	ENSP00000456985.1:p.Leu43=
ENST00000562889.5:c.315C=	ENSP00000457180.1:p.Leu105=
ENST00000563808.1:n.231C=
NM_001307952.1:c.315C=	NP_001294881.1:p.Leu105=
NM_178232.2:c.129C=	NP_839946.1:p.Leu43=
NM_178232.3:c.129C=	NP_839946.1:p.Leu43=
XM_011521261.1:c.261C=	XP_011519563.1:p.Leu87=
XR_243204.1:n.344C=
XR_931756.1:n.450C=
XM_017021934.2:c.315C=	XP_016877423.1:p.Leu105=
XM_017021935.2:c.-251C=	XP_016877424.1:n.-251C=
XM_017021936.2:c.-251C=	XP_016877425.1:n.-251C=
XR_001751098.2:n.462C=
XR_931756.3:n.463C=
NM_001307952.2:c.315C=	NP_001294881.1:p.Leu105=
NM_178232.4:c.129C= MANE Select	NP_839946.1:p.Leu43=