Canonical Allele Identifier: CA274505920

Gene: HAPLN3

Linked Data

• dbSNP Id: rs1009733257
• gnomAD v4: 15-88881651-T-C
• MyVariant Identifiers: chr15:g.89424882T>C (hg19) ; chr15:g.88881651T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881651T>C , CM000677.2:g.88881651T>C	GRCh38
NC_000015.9:g.89424882T>C , CM000677.1:g.89424882T>C	GRCh37
NC_000015.8:g.87225886T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.199A>G MANE Select	ENSP00000352606.4:p.Ile67Val
ENST00000359595.7:c.199A>G	ENSP00000352606.3:p.Ile67Val
ENST00000558770.5:c.199A>G	ENSP00000456458.1:p.Ile67Val
ENST00000562281.1:c.199A>G	ENSP00000456985.1:p.Ile67Val
ENST00000562889.5:c.385A>G	ENSP00000457180.1:p.Ile129Val
ENST00000563808.1:n.301A>G
NM_001307952.1:c.385A>G	NP_001294881.1:p.Ile129Val
NM_178232.2:c.199A>G	NP_839946.1:p.Ile67Val
NM_178232.3:c.199A>G	NP_839946.1:p.Ile67Val
XM_011521261.1:c.331A>G	XP_011519563.1:p.Ile111Val
XR_243204.1:n.414A>G
XR_931756.1:n.520A>G
XM_017021934.2:c.385A>G	XP_016877423.1:p.Ile129Val
XM_017021935.2:c.-181A>G	XP_016877424.1:n.-181A>G
XM_017021936.2:c.-181A>G	XP_016877425.1:n.-181A>G
XR_001751098.2:n.532A>G
XR_931756.3:n.533A>G
NM_001307952.2:c.385A>G	NP_001294881.1:p.Ile129Val
NM_178232.4:c.199A>G MANE Select	NP_839946.1:p.Ile67Val