Canonical Allele Identifier: CA2194346000

Gene: HAPLN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881437A= , CM000677.2:g.88881437A=	GRCh38
NC_000015.9:g.89424668A= , CM000677.1:g.89424668A=	GRCh37
NC_000015.8:g.87225672A=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.413T= MANE Select	ENSP00000352606.4:p.Leu138=
ENST00000359595.7:c.413T=	ENSP00000352606.3:p.Leu138=
ENST00000558770.5:c.413T=	ENSP00000456458.1:p.Leu138=
ENST00000562281.1:c.413T=	ENSP00000456985.1:p.Leu138=
ENST00000562889.5:c.599T=	ENSP00000457180.1:p.Leu200=
ENST00000563808.1:n.515T=
NM_001307952.1:c.599T=	NP_001294881.1:p.Leu200=
NM_178232.2:c.413T=	NP_839946.1:p.Leu138=
NM_178232.3:c.413T=	NP_839946.1:p.Leu138=
XM_011521261.1:c.545T=	XP_011519563.1:p.Leu182=
XR_243204.1:n.628T=
XR_931756.1:n.734T=
XM_017021934.2:c.599T=	XP_016877423.1:p.Leu200=
XM_017021935.2:c.34T=	XP_016877424.1:p.Trp12=
XM_017021936.2:c.34T=	XP_016877425.1:p.Trp12=
XR_001751098.2:n.746T=
XR_931756.3:n.747T=
NM_001307952.2:c.599T=	NP_001294881.1:p.Leu200=
NM_178232.4:c.413T= MANE Select	NP_839946.1:p.Leu138=