Canonical Allele Identifier: CA7721064

Gene: HAPLN3

Linked Data

• ClinVar Variation Id: 3104224
• ClinVar RCV Id: RCV004399100
• dbSNP Id: rs200158268
• ExAC: 15:89424654 G / A
• gnomAD v2: 15-89424654-G-A
• gnomAD v3: 15-88881423-G-A
• gnomAD v4: 15-88881423-G-A
• MyVariant Identifiers: chr15:g.89424654G>A (hg19) ; chr15:g.88881423G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881423G>A , CM000677.2:g.88881423G>A	GRCh38
NC_000015.9:g.89424654G>A , CM000677.1:g.89424654G>A	GRCh37
NC_000015.8:g.87225658G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.427C>T MANE Select	ENSP00000352606.4:p.Arg143Cys
ENST00000359595.7:c.427C>T	ENSP00000352606.3:p.Arg143Cys
ENST00000558770.5:c.427C>T	ENSP00000456458.1:p.Arg143Cys
ENST00000562281.1:c.427C>T	ENSP00000456985.1:p.Arg143Cys
ENST00000562889.5:c.613C>T	ENSP00000457180.1:p.Arg205Cys
ENST00000563808.1:n.529C>T
NM_001307952.1:c.613C>T	NP_001294881.1:p.Arg205Cys
NM_178232.2:c.427C>T	NP_839946.1:p.Arg143Cys
NM_178232.3:c.427C>T	NP_839946.1:p.Arg143Cys
XM_011521261.1:c.559C>T	XP_011519563.1:p.Arg187Cys
XR_243204.1:n.642C>T
XR_931756.1:n.748C>T
XM_017021934.2:c.613C>T	XP_016877423.1:p.Arg205Cys
XM_017021935.2:c.48C>T	XP_016877424.1:p.Gly16=
XM_017021936.2:c.48C>T	XP_016877425.1:p.Gly16=
XR_001751098.2:n.760C>T
XR_931756.3:n.761C>T
NM_001307952.2:c.613C>T	NP_001294881.1:p.Arg205Cys
NM_178232.4:c.427C>T MANE Select	NP_839946.1:p.Arg143Cys