Canonical Allele Identifier: CA393734103

Gene: HAPLN3

Linked Data

• dbSNP Id: rs1218052046
• gnomAD v2: 15-89424945-C-T
• gnomAD v4: 15-88881714-C-T
• MyVariant Identifiers: chr15:g.89424945C>T (hg19) ; chr15:g.88881714C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881714C>T , CM000677.2:g.88881714C>T	GRCh38
NC_000015.9:g.89424945C>T , CM000677.1:g.89424945C>T	GRCh37
NC_000015.8:g.87225949C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.136G>A MANE Select	ENSP00000352606.4:p.Gly46Arg
ENST00000359595.7:c.136G>A	ENSP00000352606.3:p.Gly46Arg
ENST00000558770.5:c.136G>A	ENSP00000456458.1:p.Gly46Arg
ENST00000562281.1:c.136G>A	ENSP00000456985.1:p.Gly46Arg
ENST00000562889.5:c.322G>A	ENSP00000457180.1:p.Gly108Arg
ENST00000563808.1:n.238G>A
NM_001307952.1:c.322G>A	NP_001294881.1:p.Gly108Arg
NM_178232.2:c.136G>A	NP_839946.1:p.Gly46Arg
NM_178232.3:c.136G>A	NP_839946.1:p.Gly46Arg
XM_011521261.1:c.268G>A	XP_011519563.1:p.Gly90Arg
XR_243204.1:n.351G>A
XR_931756.1:n.457G>A
XM_017021934.2:c.322G>A	XP_016877423.1:p.Gly108Arg
XM_017021935.2:c.-244G>A	XP_016877424.1:n.-244G>A
XM_017021936.2:c.-244G>A	XP_016877425.1:n.-244G>A
XR_001751098.2:n.469G>A
XR_931756.3:n.470G>A
NM_001307952.2:c.322G>A	NP_001294881.1:p.Gly108Arg
NM_178232.4:c.136G>A MANE Select	NP_839946.1:p.Gly46Arg