Canonical Allele Identifier: CA2194346640

Gene: HAPLN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881688G= , CM000677.2:g.88881688G=	GRCh38
NC_000015.9:g.89424919G= , CM000677.1:g.89424919G=	GRCh37
NC_000015.8:g.87225923G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.162C= MANE Select	ENSP00000352606.4:p.Pro54=
ENST00000359595.7:c.162C=	ENSP00000352606.3:p.Pro54=
ENST00000558770.5:c.162C=	ENSP00000456458.1:p.Pro54=
ENST00000562281.1:c.162C=	ENSP00000456985.1:p.Pro54=
ENST00000562889.5:c.348C=	ENSP00000457180.1:p.Pro116=
ENST00000563808.1:n.264C=
NM_001307952.1:c.348C=	NP_001294881.1:p.Pro116=
NM_178232.2:c.162C=	NP_839946.1:p.Pro54=
NM_178232.3:c.162C=	NP_839946.1:p.Pro54=
XM_011521261.1:c.294C=	XP_011519563.1:p.Pro98=
XR_243204.1:n.377C=
XR_931756.1:n.483C=
XM_017021934.2:c.348C=	XP_016877423.1:p.Pro116=
XM_017021935.2:c.-218C=	XP_016877424.1:n.-218C=
XM_017021936.2:c.-218C=	XP_016877425.1:n.-218C=
XR_001751098.2:n.495C=
XR_931756.3:n.496C=
NM_001307952.2:c.348C=	NP_001294881.1:p.Pro116=
NM_178232.4:c.162C= MANE Select	NP_839946.1:p.Pro54=