Canonical Allele Identifier: CA7721031

Gene: HAPLN3

Linked Data

• dbSNP Id: rs117304257
• ExAC: 15:89424548 C / T
• gnomAD v2: 15-89424548-C-T
• gnomAD v3: 15-88881317-C-T
• gnomAD v4: 15-88881317-C-T
• MyVariant Identifiers: chr15:g.89424548C>T (hg19) ; chr15:g.88881317C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881317C>T , CM000677.2:g.88881317C>T	GRCh38
NC_000015.9:g.89424548C>T , CM000677.1:g.89424548C>T	GRCh37
NC_000015.8:g.87225552C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.493+40G>A MANE Select	ENSP00000352606.4:n.493+40G>A
ENST00000359595.7:c.493+40G>A	ENSP00000352606.3:n.493+40G>A
ENST00000558770.5:c.493+40G>A	ENSP00000456458.1:n.493+40G>A
ENST00000562281.1:c.493+40G>A	ENSP00000456985.1:n.493+40G>A
ENST00000562889.5:c.679+40G>A	ENSP00000457180.1:n.679+40G>A
ENST00000563808.1:n.635G>A
NM_001307952.1:c.679+40G>A	NP_001294881.1:n.679+40G>A
NM_178232.2:c.493+40G>A	NP_839946.1:n.493+40G>A
NM_178232.3:c.493+40G>A	NP_839946.1:n.493+40G>A
XM_011521261.1:c.625+40G>A	XP_011519563.1:n.625+40G>A
XR_243204.1:n.708+40G>A
XR_931756.1:n.814+40G>A
XM_017021934.2:c.679+40G>A	XP_016877423.1:n.679+40G>A
XM_017021935.2:c.114+40G>A	XP_016877424.1:n.114+40G>A
XM_017021936.2:c.114+40G>A	XP_016877425.1:n.114+40G>A
XR_001751098.2:n.826+40G>A
XR_931756.3:n.827+40G>A
NM_001307952.2:c.679+40G>A	NP_001294881.1:n.679+40G>A
NM_178232.4:c.493+40G>A MANE Select	NP_839946.1:n.493+40G>A