Canonical Allele Identifier: CA2575826578

Gene: HAPLN3

Linked Data

• gnomAD v4: 15-88881287-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881287G>C , CM000677.2:g.88881287G>C	GRCh38
NC_000015.9:g.89424518G>C , CM000677.1:g.89424518G>C	GRCh37
NC_000015.8:g.87225522G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.493+70C>G MANE Select	ENSP00000352606.4:n.493+70C>G
ENST00000359595.7:c.493+70C>G	ENSP00000352606.3:n.493+70C>G
ENST00000558770.5:c.493+70C>G	ENSP00000456458.1:n.493+70C>G
ENST00000562281.1:c.493+70C>G	ENSP00000456985.1:n.493+70C>G
ENST00000562889.5:c.679+70C>G	ENSP00000457180.1:n.679+70C>G
ENST00000563808.1:n.665C>G
NM_001307952.1:c.679+70C>G	NP_001294881.1:n.679+70C>G
NM_178232.2:c.493+70C>G	NP_839946.1:n.493+70C>G
NM_178232.3:c.493+70C>G	NP_839946.1:n.493+70C>G
XM_011521261.1:c.625+70C>G	XP_011519563.1:n.625+70C>G
XR_243204.1:n.708+70C>G
XR_931756.1:n.814+70C>G
XM_017021934.2:c.679+70C>G	XP_016877423.1:n.679+70C>G
XM_017021935.2:c.114+70C>G	XP_016877424.1:n.114+70C>G
XM_017021936.2:c.114+70C>G	XP_016877425.1:n.114+70C>G
XR_001751098.2:n.826+70C>G
XR_931756.3:n.827+70C>G
NM_001307952.2:c.679+70C>G	NP_001294881.1:n.679+70C>G
NM_178232.4:c.493+70C>G MANE Select	NP_839946.1:n.493+70C>G