Canonical Allele Identifier: CA7721069

Gene: HAPLN3

Linked Data

• ClinVar Variation Id: 2399097
• ClinVar RCV Id: RCV004233816
• dbSNP Id: rs200900948
• ExAC: 15:89424671 C / T
• gnomAD v2: 15-89424671-C-T
• gnomAD v3: 15-88881440-C-T
• gnomAD v4: 15-88881440-C-T
• COSMIC: COSM4629343
• MyVariant Identifiers: chr15:g.89424671C>T (hg19) ; chr15:g.88881440C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881440C>T , CM000677.2:g.88881440C>T	GRCh38
NC_000015.9:g.89424671C>T , CM000677.1:g.89424671C>T	GRCh37
NC_000015.8:g.87225675C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.410G>A MANE Select	ENSP00000352606.4:p.Arg137Gln
ENST00000359595.7:c.410G>A	ENSP00000352606.3:p.Arg137Gln
ENST00000558770.5:c.410G>A	ENSP00000456458.1:p.Arg137Gln
ENST00000562281.1:c.410G>A	ENSP00000456985.1:p.Arg137Gln
ENST00000562889.5:c.596G>A	ENSP00000457180.1:p.Arg199Gln
ENST00000563808.1:n.512G>A
NM_001307952.1:c.596G>A	NP_001294881.1:p.Arg199Gln
NM_178232.2:c.410G>A	NP_839946.1:p.Arg137Gln
NM_178232.3:c.410G>A	NP_839946.1:p.Arg137Gln
XM_011521261.1:c.542G>A	XP_011519563.1:p.Arg181Gln
XR_243204.1:n.625G>A
XR_931756.1:n.731G>A
XM_017021934.2:c.596G>A	XP_016877423.1:p.Arg199Gln
XM_017021935.2:c.31G>A	XP_016877424.1:p.Gly11Ser
XM_017021936.2:c.31G>A	XP_016877425.1:p.Gly11Ser
XR_001751098.2:n.743G>A
XR_931756.3:n.744G>A
NM_001307952.2:c.596G>A	NP_001294881.1:p.Arg199Gln
NM_178232.4:c.410G>A MANE Select	NP_839946.1:p.Arg137Gln