Canonical Allele Identifier: CA7721074

Gene: HAPLN3

Linked Data

• dbSNP Id: rs765710261
• ExAC: 15:89424688 C / T
• gnomAD v2: 15-89424688-C-T
• gnomAD v3: 15-88881457-C-T
• gnomAD v4: 15-88881457-C-T
• MyVariant Identifiers: chr15:g.89424688C>T (hg19) ; chr15:g.88881457C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881457C>T , CM000677.2:g.88881457C>T	GRCh38
NC_000015.9:g.89424688C>T , CM000677.1:g.89424688C>T	GRCh37
NC_000015.8:g.87225692C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.393G>A MANE Select	ENSP00000352606.4:p.Leu131=
ENST00000359595.7:c.393G>A	ENSP00000352606.3:p.Leu131=
ENST00000558770.5:c.393G>A	ENSP00000456458.1:p.Leu131=
ENST00000562281.1:c.393G>A	ENSP00000456985.1:p.Leu131=
ENST00000562889.5:c.579G>A	ENSP00000457180.1:p.Leu193=
ENST00000563808.1:n.495G>A
NM_001307952.1:c.579G>A	NP_001294881.1:p.Leu193=
NM_178232.2:c.393G>A	NP_839946.1:p.Leu131=
NM_178232.3:c.393G>A	NP_839946.1:p.Leu131=
XM_011521261.1:c.525G>A	XP_011519563.1:p.Leu175=
XR_243204.1:n.608G>A
XR_931756.1:n.714G>A
XM_017021934.2:c.579G>A	XP_016877423.1:p.Leu193=
XM_017021935.2:c.14G>A	XP_016877424.1:p.Trp5Ter
XM_017021936.2:c.14G>A	XP_016877425.1:p.Trp5Ter
XR_001751098.2:n.726G>A
XR_931756.3:n.727G>A
NM_001307952.2:c.579G>A	NP_001294881.1:p.Leu193=
NM_178232.4:c.393G>A MANE Select	NP_839946.1:p.Leu131=