Canonical Allele Identifier: CA393734025

Gene: HAPLN3

Linked Data

• dbSNP Id: rs1416738855
• gnomAD v2: 15-89424908-A-T
• gnomAD v4: 15-88881677-A-T
• MyVariant Identifiers: chr15:g.89424908A>T (hg19) ; chr15:g.88881677A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881677A>T , CM000677.2:g.88881677A>T	GRCh38
NC_000015.9:g.89424908A>T , CM000677.1:g.89424908A>T	GRCh37
NC_000015.8:g.87225912A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.173T>A MANE Select	ENSP00000352606.4:p.Leu58Gln
ENST00000359595.7:c.173T>A	ENSP00000352606.3:p.Leu58Gln
ENST00000558770.5:c.173T>A	ENSP00000456458.1:p.Leu58Gln
ENST00000562281.1:c.173T>A	ENSP00000456985.1:p.Leu58Gln
ENST00000562889.5:c.359T>A	ENSP00000457180.1:p.Leu120Gln
ENST00000563808.1:n.275T>A
NM_001307952.1:c.359T>A	NP_001294881.1:p.Leu120Gln
NM_178232.2:c.173T>A	NP_839946.1:p.Leu58Gln
NM_178232.3:c.173T>A	NP_839946.1:p.Leu58Gln
XM_011521261.1:c.305T>A	XP_011519563.1:p.Leu102Gln
XR_243204.1:n.388T>A
XR_931756.1:n.494T>A
XM_017021934.2:c.359T>A	XP_016877423.1:p.Leu120Gln
XM_017021935.2:c.-207T>A	XP_016877424.1:n.-207T>A
XM_017021936.2:c.-207T>A	XP_016877425.1:n.-207T>A
XR_001751098.2:n.506T>A
XR_931756.3:n.507T>A
NM_001307952.2:c.359T>A	NP_001294881.1:p.Leu120Gln
NM_178232.4:c.173T>A MANE Select	NP_839946.1:p.Leu58Gln