Canonical Allele Identifier: CA492066351

Gene: HAPLN3

Linked Data

• dbSNP Id: rs1897692865
• gnomAD v3: 15-88881403-A-G
• gnomAD v4: 15-88881403-A-G
• MyVariant Identifiers: chr15:g.89424634A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881403A>G , CM000677.2:g.88881403A>G	GRCh38
NC_000015.9:g.89424634A>G , CM000677.1:g.89424634A>G	GRCh37
NC_000015.8:g.87225638A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.447T>C MANE Select	ENSP00000352606.4:p.Ile149=
ENST00000359595.7:c.447T>C	ENSP00000352606.3:p.Ile149=
ENST00000558770.5:c.447T>C	ENSP00000456458.1:p.Ile149=
ENST00000562281.1:c.447T>C	ENSP00000456985.1:p.Ile149=
ENST00000562889.5:c.633T>C	ENSP00000457180.1:p.Ile211=
ENST00000563808.1:n.549T>C
NM_001307952.1:c.633T>C	NP_001294881.1:p.Ile211=
NM_178232.2:c.447T>C	NP_839946.1:p.Ile149=
NM_178232.3:c.447T>C	NP_839946.1:p.Ile149=
XM_011521261.1:c.579T>C	XP_011519563.1:p.Ile193=
XR_243204.1:n.662T>C
XR_931756.1:n.768T>C
XM_017021934.2:c.633T>C	XP_016877423.1:p.Ile211=
XM_017021935.2:c.68T>C	XP_016877424.1:p.Leu23Ser
XM_017021936.2:c.68T>C	XP_016877425.1:p.Leu23Ser
XR_001751098.2:n.780T>C
XR_931756.3:n.781T>C
NM_001307952.2:c.633T>C	NP_001294881.1:p.Ile211=
NM_178232.4:c.447T>C MANE Select	NP_839946.1:p.Ile149=