Canonical Allele Identifier: CA2194345925

Gene: HAPLN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881394C= , CM000677.2:g.88881394C=	GRCh38
NC_000015.9:g.89424625C= , CM000677.1:g.89424625C=	GRCh37
NC_000015.8:g.87225629C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.456G= MANE Select	ENSP00000352606.4:p.Leu152=
ENST00000359595.7:c.456G=	ENSP00000352606.3:p.Leu152=
ENST00000558770.5:c.456G=	ENSP00000456458.1:p.Leu152=
ENST00000562281.1:c.456G=	ENSP00000456985.1:p.Leu152=
ENST00000562889.5:c.642G=	ENSP00000457180.1:p.Leu214=
ENST00000563808.1:n.558G=
NM_001307952.1:c.642G=	NP_001294881.1:p.Leu214=
NM_178232.2:c.456G=	NP_839946.1:p.Leu152=
NM_178232.3:c.456G=	NP_839946.1:p.Leu152=
XM_011521261.1:c.588G=	XP_011519563.1:p.Leu196=
XR_243204.1:n.671G=
XR_931756.1:n.777G=
XM_017021934.2:c.642G=	XP_016877423.1:p.Leu214=
XM_017021935.2:c.77G=	XP_016877424.1:p.Trp26=
XM_017021936.2:c.77G=	XP_016877425.1:p.Trp26=
XR_001751098.2:n.789G=
XR_931756.3:n.790G=
NM_001307952.2:c.642G=	NP_001294881.1:p.Leu214=
NM_178232.4:c.456G= MANE Select	NP_839946.1:p.Leu152=