Canonical Allele Identifier: CA393733581

Gene: HAPLN3

Linked Data

• gnomAD v4: 15-88881453-T-C
• MyVariant Identifiers: chr15:g.89424684T>C (hg19) ; chr15:g.88881453T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881453T>C , CM000677.2:g.88881453T>C	GRCh38
NC_000015.9:g.89424684T>C , CM000677.1:g.89424684T>C	GRCh37
NC_000015.8:g.87225688T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.397A>G MANE Select	ENSP00000352606.4:p.Ile133Val
ENST00000359595.7:c.397A>G	ENSP00000352606.3:p.Ile133Val
ENST00000558770.5:c.397A>G	ENSP00000456458.1:p.Ile133Val
ENST00000562281.1:c.397A>G	ENSP00000456985.1:p.Ile133Val
ENST00000562889.5:c.583A>G	ENSP00000457180.1:p.Ile195Val
ENST00000563808.1:n.499A>G
NM_001307952.1:c.583A>G	NP_001294881.1:p.Ile195Val
NM_178232.2:c.397A>G	NP_839946.1:p.Ile133Val
NM_178232.3:c.397A>G	NP_839946.1:p.Ile133Val
XM_011521261.1:c.529A>G	XP_011519563.1:p.Ile177Val
XR_243204.1:n.612A>G
XR_931756.1:n.718A>G
XM_017021934.2:c.583A>G	XP_016877423.1:p.Ile195Val
XM_017021935.2:c.18A>G	XP_016877424.1:p.Arg6=
XM_017021936.2:c.18A>G	XP_016877425.1:p.Arg6=
XR_001751098.2:n.730A>G
XR_931756.3:n.731A>G
NM_001307952.2:c.583A>G	NP_001294881.1:p.Ile195Val
NM_178232.4:c.397A>G MANE Select	NP_839946.1:p.Ile133Val