Canonical Allele Identifier: CA7721154

Gene: HAPLN3

Linked Data

• dbSNP Id: rs761159099
• ExAC: 15:89424925 C / A
• gnomAD v2: 15-89424925-C-A
• gnomAD v4: 15-88881694-C-A
• MyVariant Identifiers: chr15:g.89424925C>A (hg19) ; chr15:g.88881694C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881694C>A , CM000677.2:g.88881694C>A	GRCh38
NC_000015.9:g.89424925C>A , CM000677.1:g.89424925C>A	GRCh37
NC_000015.8:g.87225929C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.156G>T MANE Select	ENSP00000352606.4:p.Glu52Asp
ENST00000359595.7:c.156G>T	ENSP00000352606.3:p.Glu52Asp
ENST00000558770.5:c.156G>T	ENSP00000456458.1:p.Glu52Asp
ENST00000562281.1:c.156G>T	ENSP00000456985.1:p.Glu52Asp
ENST00000562889.5:c.342G>T	ENSP00000457180.1:p.Glu114Asp
ENST00000563808.1:n.258G>T
NM_001307952.1:c.342G>T	NP_001294881.1:p.Glu114Asp
NM_178232.2:c.156G>T	NP_839946.1:p.Glu52Asp
NM_178232.3:c.156G>T	NP_839946.1:p.Glu52Asp
XM_011521261.1:c.288G>T	XP_011519563.1:p.Glu96Asp
XR_243204.1:n.371G>T
XR_931756.1:n.477G>T
XM_017021934.2:c.342G>T	XP_016877423.1:p.Glu114Asp
XM_017021935.2:c.-224G>T	XP_016877424.1:n.-224G>T
XM_017021936.2:c.-224G>T	XP_016877425.1:n.-224G>T
XR_001751098.2:n.489G>T
XR_931756.3:n.490G>T
NM_001307952.2:c.342G>T	NP_001294881.1:p.Glu114Asp
NM_178232.4:c.156G>T MANE Select	NP_839946.1:p.Glu52Asp