Canonical Allele Identifier: CA492288640

Gene: HAPLN3

Linked Data

• dbSNP Id: rs1462513205
• gnomAD v2: 15-89424886-A-G
• MyVariant Identifiers: chr15:g.89424886A>G (hg19) ; chr15:g.88881655A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881655A>G , CM000677.2:g.88881655A>G	GRCh38
NC_000015.9:g.89424886A>G , CM000677.1:g.89424886A>G	GRCh37
NC_000015.8:g.87225890A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.195T>C MANE Select	ENSP00000352606.4:p.Ser65=
ENST00000359595.7:c.195T>C	ENSP00000352606.3:p.Ser65=
ENST00000558770.5:c.195T>C	ENSP00000456458.1:p.Ser65=
ENST00000562281.1:c.195T>C	ENSP00000456985.1:p.Ser65=
ENST00000562889.5:c.381T>C	ENSP00000457180.1:p.Ser127=
ENST00000563808.1:n.297T>C
NM_001307952.1:c.381T>C	NP_001294881.1:p.Ser127=
NM_178232.2:c.195T>C	NP_839946.1:p.Ser65=
NM_178232.3:c.195T>C	NP_839946.1:p.Ser65=
XM_011521261.1:c.327T>C	XP_011519563.1:p.Ser109=
XR_243204.1:n.410T>C
XR_931756.1:n.516T>C
XM_017021934.2:c.381T>C	XP_016877423.1:p.Ser127=
XM_017021935.2:c.-185T>C	XP_016877424.1:n.-185T>C
XM_017021936.2:c.-185T>C	XP_016877425.1:n.-185T>C
XR_001751098.2:n.528T>C
XR_931756.3:n.529T>C
NM_001307952.2:c.381T>C	NP_001294881.1:p.Ser127=
NM_178232.4:c.195T>C MANE Select	NP_839946.1:p.Ser65=