Canonical Allele Identifier: CA274505959

Gene: HAPLN3

Linked Data

• ClinVar Variation Id: 2540128
• ClinVar RCV Id: RCV004309722
• dbSNP Id: rs979232909
• gnomAD v4: 15-88881680-G-A
• MyVariant Identifiers: chr15:g.89424911G>A (hg19) ; chr15:g.88881680G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881680G>A , CM000677.2:g.88881680G>A	GRCh38
NC_000015.9:g.89424911G>A , CM000677.1:g.89424911G>A	GRCh37
NC_000015.8:g.87225915G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.170C>T MANE Select	ENSP00000352606.4:p.Thr57Ile
ENST00000359595.7:c.170C>T	ENSP00000352606.3:p.Thr57Ile
ENST00000558770.5:c.170C>T	ENSP00000456458.1:p.Thr57Ile
ENST00000562281.1:c.170C>T	ENSP00000456985.1:p.Thr57Ile
ENST00000562889.5:c.356C>T	ENSP00000457180.1:p.Thr119Ile
ENST00000563808.1:n.272C>T
NM_001307952.1:c.356C>T	NP_001294881.1:p.Thr119Ile
NM_178232.2:c.170C>T	NP_839946.1:p.Thr57Ile
NM_178232.3:c.170C>T	NP_839946.1:p.Thr57Ile
XM_011521261.1:c.302C>T	XP_011519563.1:p.Thr101Ile
XR_243204.1:n.385C>T
XR_931756.1:n.491C>T
XM_017021934.2:c.356C>T	XP_016877423.1:p.Thr119Ile
XM_017021935.2:c.-210C>T	XP_016877424.1:n.-210C>T
XM_017021936.2:c.-210C>T	XP_016877425.1:n.-210C>T
XR_001751098.2:n.503C>T
XR_931756.3:n.504C>T
NM_001307952.2:c.356C>T	NP_001294881.1:p.Thr119Ile
NM_178232.4:c.170C>T MANE Select	NP_839946.1:p.Thr57Ile