Canonical Allele Identifier: CA2194346030

Gene: HAPLN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881445A= , CM000677.2:g.88881445A=	GRCh38
NC_000015.9:g.89424676A= , CM000677.1:g.89424676A=	GRCh37
NC_000015.8:g.87225680A=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.405T= MANE Select	ENSP00000352606.4:p.Asp135=
ENST00000359595.7:c.405T=	ENSP00000352606.3:p.Asp135=
ENST00000558770.5:c.405T=	ENSP00000456458.1:p.Asp135=
ENST00000562281.1:c.405T=	ENSP00000456985.1:p.Asp135=
ENST00000562889.5:c.591T=	ENSP00000457180.1:p.Asp197=
ENST00000563808.1:n.507T=
NM_001307952.1:c.591T=	NP_001294881.1:p.Asp197=
NM_178232.2:c.405T=	NP_839946.1:p.Asp135=
NM_178232.3:c.405T=	NP_839946.1:p.Asp135=
XM_011521261.1:c.537T=	XP_011519563.1:p.Asp179=
XR_243204.1:n.620T=
XR_931756.1:n.726T=
XM_017021934.2:c.591T=	XP_016877423.1:p.Asp197=
XM_017021935.2:c.26T=	XP_016877424.1:p.Ile9=
XM_017021936.2:c.26T=	XP_016877425.1:p.Ile9=
XR_001751098.2:n.738T=
XR_931756.3:n.739T=
NM_001307952.2:c.591T=	NP_001294881.1:p.Asp197=
NM_178232.4:c.405T= MANE Select	NP_839946.1:p.Asp135=