Canonical Allele Identifier: CA274505288

Gene: HAPLN3

Linked Data

• dbSNP Id: rs865971412
• gnomAD v3: 15-88881219-A-G
• gnomAD v4: 15-88881219-A-G
• MyVariant Identifiers: chr15:g.89424450A>G (hg19) ; chr15:g.88881219A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881219A>G , CM000677.2:g.88881219A>G	GRCh38
NC_000015.9:g.89424450A>G , CM000677.1:g.89424450A>G	GRCh37
NC_000015.8:g.87225454A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.493+138T>C MANE Select	ENSP00000352606.4:n.493+138T>C
ENST00000359595.7:c.493+138T>C	ENSP00000352606.3:n.493+138T>C
ENST00000558770.5:c.493+138T>C	ENSP00000456458.1:n.493+138T>C
ENST00000562281.1:c.493+138T>C	ENSP00000456985.1:n.493+138T>C
ENST00000562889.5:c.679+138T>C	ENSP00000457180.1:n.679+138T>C
ENST00000563808.1:n.733T>C
NM_001307952.1:c.679+138T>C	NP_001294881.1:n.679+138T>C
NM_178232.2:c.493+138T>C	NP_839946.1:n.493+138T>C
NM_178232.3:c.493+138T>C	NP_839946.1:n.493+138T>C
XM_011521261.1:c.625+138T>C	XP_011519563.1:n.625+138T>C
XR_243204.1:n.708+138T>C
XR_931756.1:n.814+138T>C
XM_017021934.2:c.679+138T>C	XP_016877423.1:n.679+138T>C
XM_017021935.2:c.114+138T>C	XP_016877424.1:n.114+138T>C
XM_017021936.2:c.114+138T>C	XP_016877425.1:n.114+138T>C
XR_001751098.2:n.826+138T>C
XR_931756.3:n.827+138T>C
NM_001307952.2:c.679+138T>C	NP_001294881.1:n.679+138T>C
NM_178232.4:c.493+138T>C MANE Select	NP_839946.1:n.493+138T>C