Canonical Allele Identifier: CA2194346064

Gene: HAPLN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881460C= , CM000677.2:g.88881460C=	GRCh38
NC_000015.9:g.89424691C= , CM000677.1:g.89424691C=	GRCh37
NC_000015.8:g.87225695C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.390G= MANE Select	ENSP00000352606.4:p.Ser130=
ENST00000359595.7:c.390G=	ENSP00000352606.3:p.Ser130=
ENST00000558770.5:c.390G=	ENSP00000456458.1:p.Ser130=
ENST00000562281.1:c.390G=	ENSP00000456985.1:p.Ser130=
ENST00000562889.5:c.576G=	ENSP00000457180.1:p.Ser192=
ENST00000563808.1:n.492G=
NM_001307952.1:c.576G=	NP_001294881.1:p.Ser192=
NM_178232.2:c.390G=	NP_839946.1:p.Ser130=
NM_178232.3:c.390G=	NP_839946.1:p.Ser130=
XM_011521261.1:c.522G=	XP_011519563.1:p.Ser174=
XR_243204.1:n.605G=
XR_931756.1:n.711G=
XM_017021934.2:c.576G=	XP_016877423.1:p.Ser192=
XM_017021935.2:c.11G=	XP_016877424.1:p.Arg4=
XM_017021936.2:c.11G=	XP_016877425.1:p.Arg4=
XR_001751098.2:n.723G=
XR_931756.3:n.724G=
NM_001307952.2:c.576G=	NP_001294881.1:p.Ser192=
NM_178232.4:c.390G= MANE Select	NP_839946.1:p.Ser130=