Canonical Allele Identifier: CA492288627

Gene: HAPLN3

Linked Data

• gnomAD v4: 15-88881697-C-T
• COSMIC: COSM3505223
• MyVariant Identifiers: chr15:g.89424928C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881697C>T , CM000677.2:g.88881697C>T	GRCh38
NC_000015.9:g.89424928C>T , CM000677.1:g.89424928C>T	GRCh37
NC_000015.8:g.87225932C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.153G>A MANE Select	ENSP00000352606.4:p.Val51=
ENST00000359595.7:c.153G>A	ENSP00000352606.3:p.Val51=
ENST00000558770.5:c.153G>A	ENSP00000456458.1:p.Val51=
ENST00000562281.1:c.153G>A	ENSP00000456985.1:p.Val51=
ENST00000562889.5:c.339G>A	ENSP00000457180.1:p.Val113=
ENST00000563808.1:n.255G>A
NM_001307952.1:c.339G>A	NP_001294881.1:p.Val113=
NM_178232.2:c.153G>A	NP_839946.1:p.Val51=
NM_178232.3:c.153G>A	NP_839946.1:p.Val51=
XM_011521261.1:c.285G>A	XP_011519563.1:p.Val95=
XR_243204.1:n.368G>A
XR_931756.1:n.474G>A
XM_017021934.2:c.339G>A	XP_016877423.1:p.Val113=
XM_017021935.2:c.-227G>A	XP_016877424.1:n.-227G>A
XM_017021936.2:c.-227G>A	XP_016877425.1:n.-227G>A
XR_001751098.2:n.486G>A
XR_931756.3:n.487G>A
NM_001307952.2:c.339G>A	NP_001294881.1:p.Val113=
NM_178232.4:c.153G>A MANE Select	NP_839946.1:p.Val51=