Canonical Allele Identifier: CA393734055

Gene: HAPLN3

Linked Data

• MyVariant Identifiers: chr15:g.89424923G>T (hg19) ; chr15:g.88881692G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881692G>T , CM000677.2:g.88881692G>T	GRCh38
NC_000015.9:g.89424923G>T , CM000677.1:g.89424923G>T	GRCh37
NC_000015.8:g.87225927G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.158C>A MANE Select	ENSP00000352606.4:p.Thr53Lys
ENST00000359595.7:c.158C>A	ENSP00000352606.3:p.Thr53Lys
ENST00000558770.5:c.158C>A	ENSP00000456458.1:p.Thr53Lys
ENST00000562281.1:c.158C>A	ENSP00000456985.1:p.Thr53Lys
ENST00000562889.5:c.344C>A	ENSP00000457180.1:p.Thr115Lys
ENST00000563808.1:n.260C>A
NM_001307952.1:c.344C>A	NP_001294881.1:p.Thr115Lys
NM_178232.2:c.158C>A	NP_839946.1:p.Thr53Lys
NM_178232.3:c.158C>A	NP_839946.1:p.Thr53Lys
XM_011521261.1:c.290C>A	XP_011519563.1:p.Thr97Lys
XR_243204.1:n.373C>A
XR_931756.1:n.479C>A
XM_017021934.2:c.344C>A	XP_016877423.1:p.Thr115Lys
XM_017021935.2:c.-222C>A	XP_016877424.1:n.-222C>A
XM_017021936.2:c.-222C>A	XP_016877425.1:n.-222C>A
XR_001751098.2:n.491C>A
XR_931756.3:n.492C>A
NM_001307952.2:c.344C>A	NP_001294881.1:p.Thr115Lys
NM_178232.4:c.158C>A MANE Select	NP_839946.1:p.Thr53Lys