Canonical Allele Identifier: CA7721155

Gene: HAPLN3

Linked Data

• dbSNP Id: rs771136193
• ExAC: 15:89424950 A / C
• gnomAD v2: 15-89424950-A-C
• gnomAD v4: 15-88881719-A-C
• MyVariant Identifiers: chr15:g.89424950A>C (hg19) ; chr15:g.88881719A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881719A>C , CM000677.2:g.88881719A>C	GRCh38
NC_000015.9:g.89424950A>C , CM000677.1:g.89424950A>C	GRCh37
NC_000015.8:g.87225954A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.131T>G MANE Select	ENSP00000352606.4:p.Leu44Arg
ENST00000359595.7:c.131T>G	ENSP00000352606.3:p.Leu44Arg
ENST00000558770.5:c.131T>G	ENSP00000456458.1:p.Leu44Arg
ENST00000562281.1:c.131T>G	ENSP00000456985.1:p.Leu44Arg
ENST00000562889.5:c.317T>G	ENSP00000457180.1:p.Leu106Arg
ENST00000563808.1:n.233T>G
NM_001307952.1:c.317T>G	NP_001294881.1:p.Leu106Arg
NM_178232.2:c.131T>G	NP_839946.1:p.Leu44Arg
NM_178232.3:c.131T>G	NP_839946.1:p.Leu44Arg
XM_011521261.1:c.263T>G	XP_011519563.1:p.Leu88Arg
XR_243204.1:n.346T>G
XR_931756.1:n.452T>G
XM_017021934.2:c.317T>G	XP_016877423.1:p.Leu106Arg
XM_017021935.2:c.-249T>G	XP_016877424.1:n.-249T>G
XM_017021936.2:c.-249T>G	XP_016877425.1:n.-249T>G
XR_001751098.2:n.464T>G
XR_931756.3:n.465T>G
NM_001307952.2:c.317T>G	NP_001294881.1:p.Leu106Arg
NM_178232.4:c.131T>G MANE Select	NP_839946.1:p.Leu44Arg