Canonical Allele Identifier: CA393733606

Gene: HAPLN3

Linked Data

• dbSNP Id: rs74819608
• gnomAD v2: 15-89424697-G-T
• gnomAD v3: 15-88881466-G-T
• gnomAD v4: 15-88881466-G-T
• MyVariant Identifiers: chr15:g.89424697G>T (hg19) ; chr15:g.88881466G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881466G>T , CM000677.2:g.88881466G>T	GRCh38
NC_000015.9:g.89424697G>T , CM000677.1:g.89424697G>T	GRCh37
NC_000015.8:g.87225701G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.384C>A MANE Select	ENSP00000352606.4:p.Asp128Glu
ENST00000359595.7:c.384C>A	ENSP00000352606.3:p.Asp128Glu
ENST00000558770.5:c.384C>A	ENSP00000456458.1:p.Asp128Glu
ENST00000562281.1:c.384C>A	ENSP00000456985.1:p.Asp128Glu
ENST00000562889.5:c.570C>A	ENSP00000457180.1:p.Asp190Glu
ENST00000563808.1:n.486C>A
NM_001307952.1:c.570C>A	NP_001294881.1:p.Asp190Glu
NM_178232.2:c.384C>A	NP_839946.1:p.Asp128Glu
NM_178232.3:c.384C>A	NP_839946.1:p.Asp128Glu
XM_011521261.1:c.516C>A	XP_011519563.1:p.Asp172Glu
XR_243204.1:n.599C>A
XR_931756.1:n.705C>A
XM_017021934.2:c.570C>A	XP_016877423.1:p.Asp190Glu
XM_017021935.2:c.5C>A	XP_016877424.1:p.Thr2Lys
XM_017021936.2:c.5C>A	XP_016877425.1:p.Thr2Lys
XR_001751098.2:n.717C>A
XR_931756.3:n.718C>A
NM_001307952.2:c.570C>A	NP_001294881.1:p.Asp190Glu
NM_178232.4:c.384C>A MANE Select	NP_839946.1:p.Asp128Glu