Canonical Allele Identifier: CA2194346513

Gene: HAPLN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881639G= , CM000677.2:g.88881639G=	GRCh38
NC_000015.9:g.89424870G= , CM000677.1:g.89424870G=	GRCh37
NC_000015.8:g.87225874G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_178232.4:c.211C= MANE Select	NP_839946.1:p.Arg71=
ENST00000359595.8:c.211C= MANE Select	ENSP00000352606.4:p.Arg71=
NM_001307952.1:c.397C=	NP_001294881.1:p.Arg133=
NM_001307952.2:c.397C=	NP_001294881.1:p.Arg133=
NM_178232.2:c.211C=	NP_839946.1:p.Arg71=
NM_178232.3:c.211C=	NP_839946.1:p.Arg71=
ENST00000359595.7:c.211C=	ENSP00000352606.3:p.Arg71=
ENST00000558770.5:c.211C=	ENSP00000456458.1:p.Arg71=
ENST00000562281.1:c.211C=	ENSP00000456985.1:p.Arg71=
ENST00000562889.5:c.397C=	ENSP00000457180.1:p.Arg133=
ENST00000563808.1:n.313C=
XM_011521261.1:c.343C=	XP_011519563.1:p.Arg115=
XM_017021934.2:c.397C=	XP_016877423.1:p.Arg133=
XM_017021935.2:c.-169C=	XP_016877424.1:n.-169C=
XM_017021936.2:c.-169C=	XP_016877425.1:n.-169C=
XR_001751098.2:n.544C=
XR_243204.1:n.426C=
XR_931756.1:n.532C=
XR_931756.3:n.545C=