Canonical Allele Identifier: CA393733591

Gene: HAPLN3

Linked Data

• dbSNP Id: rs1178532123
• gnomAD v2: 15-89424689-A-C
• gnomAD v4: 15-88881458-A-C
• MyVariant Identifiers: chr15:g.89424689A>C (hg19) ; chr15:g.88881458A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881458A>C , CM000677.2:g.88881458A>C	GRCh38
NC_000015.9:g.89424689A>C , CM000677.1:g.89424689A>C	GRCh37
NC_000015.8:g.87225693A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.392T>G MANE Select	ENSP00000352606.4:p.Leu131Arg
ENST00000359595.7:c.392T>G	ENSP00000352606.3:p.Leu131Arg
ENST00000558770.5:c.392T>G	ENSP00000456458.1:p.Leu131Arg
ENST00000562281.1:c.392T>G	ENSP00000456985.1:p.Leu131Arg
ENST00000562889.5:c.578T>G	ENSP00000457180.1:p.Leu193Arg
ENST00000563808.1:n.494T>G
NM_001307952.1:c.578T>G	NP_001294881.1:p.Leu193Arg
NM_178232.2:c.392T>G	NP_839946.1:p.Leu131Arg
NM_178232.3:c.392T>G	NP_839946.1:p.Leu131Arg
XM_011521261.1:c.524T>G	XP_011519563.1:p.Leu175Arg
XR_243204.1:n.607T>G
XR_931756.1:n.713T>G
XM_017021934.2:c.578T>G	XP_016877423.1:p.Leu193Arg
XM_017021935.2:c.13T>G	XP_016877424.1:p.Trp5Gly
XM_017021936.2:c.13T>G	XP_016877425.1:p.Trp5Gly
XR_001751098.2:n.725T>G
XR_931756.3:n.726T>G
NM_001307952.2:c.578T>G	NP_001294881.1:p.Leu193Arg
NM_178232.4:c.392T>G MANE Select	NP_839946.1:p.Leu131Arg