Canonical Allele Identifier: CA393733472

Gene: HAPLN3

Linked Data

• dbSNP Id: rs753041451
• gnomAD v2: 15-89424630-C-T
• gnomAD v4: 15-88881399-C-T
• MyVariant Identifiers: chr15:g.89424630C>T (hg19) ; chr15:g.88881399C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881399C>T , CM000677.2:g.88881399C>T	GRCh38
NC_000015.9:g.89424630C>T , CM000677.1:g.89424630C>T	GRCh37
NC_000015.8:g.87225634C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.451G>A MANE Select	ENSP00000352606.4:p.Gly151Arg
ENST00000359595.7:c.451G>A	ENSP00000352606.3:p.Gly151Arg
ENST00000558770.5:c.451G>A	ENSP00000456458.1:p.Gly151Arg
ENST00000562281.1:c.451G>A	ENSP00000456985.1:p.Gly151Arg
ENST00000562889.5:c.637G>A	ENSP00000457180.1:p.Gly213Arg
ENST00000563808.1:n.553G>A
NM_001307952.1:c.637G>A	NP_001294881.1:p.Gly213Arg
NM_178232.2:c.451G>A	NP_839946.1:p.Gly151Arg
NM_178232.3:c.451G>A	NP_839946.1:p.Gly151Arg
XM_011521261.1:c.583G>A	XP_011519563.1:p.Gly195Arg
XR_243204.1:n.666G>A
XR_931756.1:n.772G>A
XM_017021934.2:c.637G>A	XP_016877423.1:p.Gly213Arg
XM_017021935.2:c.72G>A	XP_016877424.1:p.Thr24=
XM_017021936.2:c.72G>A	XP_016877425.1:p.Thr24=
XR_001751098.2:n.784G>A
XR_931756.3:n.785G>A
NM_001307952.2:c.637G>A	NP_001294881.1:p.Gly213Arg
NM_178232.4:c.451G>A MANE Select	NP_839946.1:p.Gly151Arg