Canonical Allele Identifier: CA2194345948

Gene: HAPLN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881406G= , CM000677.2:g.88881406G=	GRCh38
NC_000015.9:g.89424637G= , CM000677.1:g.89424637G=	GRCh37
NC_000015.8:g.87225641G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.444C= MANE Select	ENSP00000352606.4:p.Val148=
ENST00000359595.7:c.444C=	ENSP00000352606.3:p.Val148=
ENST00000558770.5:c.444C=	ENSP00000456458.1:p.Val148=
ENST00000562281.1:c.444C=	ENSP00000456985.1:p.Val148=
ENST00000562889.5:c.630C=	ENSP00000457180.1:p.Val210=
ENST00000563808.1:n.546C=
NM_001307952.1:c.630C=	NP_001294881.1:p.Val210=
NM_178232.2:c.444C=	NP_839946.1:p.Val148=
NM_178232.3:c.444C=	NP_839946.1:p.Val148=
XM_011521261.1:c.576C=	XP_011519563.1:p.Val192=
XR_243204.1:n.659C=
XR_931756.1:n.765C=
XM_017021934.2:c.630C=	XP_016877423.1:p.Val210=
XM_017021935.2:c.65C=	XP_016877424.1:p.Ser22=
XM_017021936.2:c.65C=	XP_016877425.1:p.Ser22=
XR_001751098.2:n.777C=
XR_931756.3:n.778C=
NM_001307952.2:c.630C=	NP_001294881.1:p.Val210=
NM_178232.4:c.444C= MANE Select	NP_839946.1:p.Val148=