Canonical Allele Identifier: CA393733585

Gene: HAPLN3

Linked Data

• gnomAD v4: 15-88881455-T-A
• MyVariant Identifiers: chr15:g.89424686T>A (hg19) ; chr15:g.88881455T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881455T>A , CM000677.2:g.88881455T>A	GRCh38
NC_000015.9:g.89424686T>A , CM000677.1:g.89424686T>A	GRCh37
NC_000015.8:g.87225690T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.395A>T MANE Select	ENSP00000352606.4:p.Glu132Val
ENST00000359595.7:c.395A>T	ENSP00000352606.3:p.Glu132Val
ENST00000558770.5:c.395A>T	ENSP00000456458.1:p.Glu132Val
ENST00000562281.1:c.395A>T	ENSP00000456985.1:p.Glu132Val
ENST00000562889.5:c.581A>T	ENSP00000457180.1:p.Glu194Val
ENST00000563808.1:n.497A>T
NM_001307952.1:c.581A>T	NP_001294881.1:p.Glu194Val
NM_178232.2:c.395A>T	NP_839946.1:p.Glu132Val
NM_178232.3:c.395A>T	NP_839946.1:p.Glu132Val
XM_011521261.1:c.527A>T	XP_011519563.1:p.Glu176Val
XR_243204.1:n.610A>T
XR_931756.1:n.716A>T
XM_017021934.2:c.581A>T	XP_016877423.1:p.Glu194Val
XM_017021935.2:c.16A>T	XP_016877424.1:p.Arg6Ter
XM_017021936.2:c.16A>T	XP_016877425.1:p.Arg6Ter
XR_001751098.2:n.728A>T
XR_931756.3:n.729A>T
NM_001307952.2:c.581A>T	NP_001294881.1:p.Glu194Val
NM_178232.4:c.395A>T MANE Select	NP_839946.1:p.Glu132Val