Canonical Allele Identifier: CA393733389

Gene: HAPLN3

Linked Data

• dbSNP Id: rs145539372
• gnomAD v3: 15-88881357-C-G
• gnomAD v4: 15-88881357-C-G
• MyVariant Identifiers: chr15:g.89424588C>G (hg19) ; chr15:g.88881357C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881357C>G , CM000677.2:g.88881357C>G	GRCh38
NC_000015.9:g.89424588C>G , CM000677.1:g.89424588C>G	GRCh37
NC_000015.8:g.87225592C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.493G>C MANE Select	ENSP00000352606.4:p.Gly165Arg
ENST00000359595.7:c.493G>C	ENSP00000352606.3:p.Gly165Arg
ENST00000558770.5:c.493G>C	ENSP00000456458.1:p.Gly165Arg
ENST00000562281.1:c.493G>C	ENSP00000456985.1:p.Ala165Pro
ENST00000562889.5:c.679G>C	ENSP00000457180.1:p.Gly227Arg
ENST00000563808.1:n.595G>C
NM_001307952.1:c.679G>C	NP_001294881.1:p.Gly227Arg
NM_178232.2:c.493G>C	NP_839946.1:p.Gly165Arg
NM_178232.3:c.493G>C	NP_839946.1:p.Gly165Arg
XM_011521261.1:c.625G>C	XP_011519563.1:p.Gly209Arg
XR_243204.1:n.708G>C
XR_931756.1:n.814G>C
XM_017021934.2:c.679G>C	XP_016877423.1:p.Gly227Arg
XM_017021935.2:c.114G>C	XP_016877424.1:p.Gly38=
XM_017021936.2:c.114G>C	XP_016877425.1:p.Gly38=
XR_001751098.2:n.826G>C
XR_931756.3:n.827G>C
NM_001307952.2:c.679G>C	NP_001294881.1:p.Gly227Arg
NM_178232.4:c.493G>C MANE Select	NP_839946.1:p.Gly165Arg