Canonical Allele Identifier: CA7721053

Gene: HAPLN3

Linked Data

• ClinVar Variation Id: 2341512
• ClinVar RCV Id: RCV004183406
• dbSNP Id: rs149540064
• ExAC: 15:89424612 C / T
• gnomAD v2: 15-89424612-C-T
• gnomAD v3: 15-88881381-C-T
• gnomAD v4: 15-88881381-C-T
• MyVariant Identifiers: chr15:g.89424612C>T (hg19) ; chr15:g.88881381C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881381C>T , CM000677.2:g.88881381C>T	GRCh38
NC_000015.9:g.89424612C>T , CM000677.1:g.89424612C>T	GRCh37
NC_000015.8:g.87225616C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.469G>A MANE Select	ENSP00000352606.4:p.Gly157Ser
ENST00000359595.7:c.469G>A	ENSP00000352606.3:p.Gly157Ser
ENST00000558770.5:c.469G>A	ENSP00000456458.1:p.Gly157Ser
ENST00000562281.1:c.469G>A	ENSP00000456985.1:p.Gly157Ser
ENST00000562889.5:c.655G>A	ENSP00000457180.1:p.Gly219Ser
ENST00000563808.1:n.571G>A
NM_001307952.1:c.655G>A	NP_001294881.1:p.Gly219Ser
NM_178232.2:c.469G>A	NP_839946.1:p.Gly157Ser
NM_178232.3:c.469G>A	NP_839946.1:p.Gly157Ser
XM_011521261.1:c.601G>A	XP_011519563.1:p.Gly201Ser
XR_243204.1:n.684G>A
XR_931756.1:n.790G>A
XM_017021934.2:c.655G>A	XP_016877423.1:p.Gly219Ser
XM_017021935.2:c.90G>A	XP_016877424.1:p.Ala30=
XM_017021936.2:c.90G>A	XP_016877425.1:p.Ala30=
XR_001751098.2:n.802G>A
XR_931756.3:n.803G>A
NM_001307952.2:c.655G>A	NP_001294881.1:p.Gly219Ser
NM_178232.4:c.469G>A MANE Select	NP_839946.1:p.Gly157Ser