Canonical Allele Identifier: CA2575826576
Gene: HAPLN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88881278A>T , CM000677.2:g.88881278A>T GRCh38
NC_000015.9:g.89424509A>T , CM000677.1:g.89424509A>T GRCh37
NC_000015.8:g.87225513A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359595.8:c.493+79T>A MANE Select ENSP00000352606.4:n.493+79T>A
ENST00000359595.7:c.493+79T>A ENSP00000352606.3:n.493+79T>A
ENST00000558770.5:c.493+79T>A ENSP00000456458.1:n.493+79T>A
ENST00000562281.1:c.493+79T>A ENSP00000456985.1:n.493+79T>A
ENST00000562889.5:c.679+79T>A ENSP00000457180.1:n.679+79T>A
ENST00000563808.1:n.674T>A
NM_001307952.1:c.679+79T>A NP_001294881.1:n.679+79T>A
NM_178232.2:c.493+79T>A NP_839946.1:n.493+79T>A
NM_178232.3:c.493+79T>A NP_839946.1:n.493+79T>A
XM_011521261.1:c.625+79T>A XP_011519563.1:n.625+79T>A
XR_243204.1:n.708+79T>A
XR_931756.1:n.814+79T>A
XM_017021934.2:c.679+79T>A XP_016877423.1:n.679+79T>A
XM_017021935.2:c.114+79T>A XP_016877424.1:n.114+79T>A
XM_017021936.2:c.114+79T>A XP_016877425.1:n.114+79T>A
XR_001751098.2:n.826+79T>A
XR_931756.3:n.827+79T>A
NM_001307952.2:c.679+79T>A NP_001294881.1:n.679+79T>A
NM_178232.4:c.493+79T>A MANE Select NP_839946.1:n.493+79T>A