Canonical Allele Identifier: CA393733463

Gene: HAPLN3

Linked Data

• dbSNP Id: rs1567200811
• MyVariant Identifiers: chr15:g.89424626A>C (hg19) ; chr15:g.88881395A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881395A>C , CM000677.2:g.88881395A>C	GRCh38
NC_000015.9:g.89424626A>C , CM000677.1:g.89424626A>C	GRCh37
NC_000015.8:g.87225630A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.455T>G MANE Select	ENSP00000352606.4:p.Leu152Arg
ENST00000359595.7:c.455T>G	ENSP00000352606.3:p.Leu152Arg
ENST00000558770.5:c.455T>G	ENSP00000456458.1:p.Leu152Arg
ENST00000562281.1:c.455T>G	ENSP00000456985.1:p.Leu152Arg
ENST00000562889.5:c.641T>G	ENSP00000457180.1:p.Leu214Arg
ENST00000563808.1:n.557T>G
NM_001307952.1:c.641T>G	NP_001294881.1:p.Leu214Arg
NM_178232.2:c.455T>G	NP_839946.1:p.Leu152Arg
NM_178232.3:c.455T>G	NP_839946.1:p.Leu152Arg
XM_011521261.1:c.587T>G	XP_011519563.1:p.Leu196Arg
XR_243204.1:n.670T>G
XR_931756.1:n.776T>G
XM_017021934.2:c.641T>G	XP_016877423.1:p.Leu214Arg
XM_017021935.2:c.76T>G	XP_016877424.1:p.Trp26Gly
XM_017021936.2:c.76T>G	XP_016877425.1:p.Trp26Gly
XR_001751098.2:n.788T>G
XR_931756.3:n.789T>G
NM_001307952.2:c.641T>G	NP_001294881.1:p.Leu214Arg
NM_178232.4:c.455T>G MANE Select	NP_839946.1:p.Leu152Arg