Canonical Allele Identifier: CA7721066

Gene: HAPLN3

Linked Data

• ClinVar Variation Id: 2217431
• ClinVar RCV Id: RCV004076385
• dbSNP Id: rs774166774
• ExAC: 15:89424657 C / T
• gnomAD v2: 15-89424657-C-T
• gnomAD v4: 15-88881426-C-T
• MyVariant Identifiers: chr15:g.89424657C>T (hg19) ; chr15:g.88881426C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881426C>T , CM000677.2:g.88881426C>T	GRCh38
NC_000015.9:g.89424657C>T , CM000677.1:g.89424657C>T	GRCh37
NC_000015.8:g.87225661C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.424G>A MANE Select	ENSP00000352606.4:p.Gly142Arg
ENST00000359595.7:c.424G>A	ENSP00000352606.3:p.Gly142Arg
ENST00000558770.5:c.424G>A	ENSP00000456458.1:p.Gly142Arg
ENST00000562281.1:c.424G>A	ENSP00000456985.1:p.Gly142Arg
ENST00000562889.5:c.610G>A	ENSP00000457180.1:p.Gly204Arg
ENST00000563808.1:n.526G>A
NM_001307952.1:c.610G>A	NP_001294881.1:p.Gly204Arg
NM_178232.2:c.424G>A	NP_839946.1:p.Gly142Arg
NM_178232.3:c.424G>A	NP_839946.1:p.Gly142Arg
XM_011521261.1:c.556G>A	XP_011519563.1:p.Gly186Arg
XR_243204.1:n.639G>A
XR_931756.1:n.745G>A
XM_017021934.2:c.610G>A	XP_016877423.1:p.Gly204Arg
XM_017021935.2:c.45G>A	XP_016877424.1:p.Met15Ile
XM_017021936.2:c.45G>A	XP_016877425.1:p.Met15Ile
XR_001751098.2:n.757G>A
XR_931756.3:n.758G>A
NM_001307952.2:c.610G>A	NP_001294881.1:p.Gly204Arg
NM_178232.4:c.424G>A MANE Select	NP_839946.1:p.Gly142Arg