Canonical Allele Identifier: CA492288669

Gene: HAPLN3

Linked Data

• dbSNP Id: rs1897709624
• MyVariant Identifiers: chr15:g.89424949A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881718A>G , CM000677.2:g.88881718A>G	GRCh38
NC_000015.9:g.89424949A>G , CM000677.1:g.89424949A>G	GRCh37
NC_000015.8:g.87225953A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.132T>C MANE Select	ENSP00000352606.4:p.Leu44=
ENST00000359595.7:c.132T>C	ENSP00000352606.3:p.Leu44=
ENST00000558770.5:c.132T>C	ENSP00000456458.1:p.Leu44=
ENST00000562281.1:c.132T>C	ENSP00000456985.1:p.Leu44=
ENST00000562889.5:c.318T>C	ENSP00000457180.1:p.Leu106=
ENST00000563808.1:n.234T>C
NM_001307952.1:c.318T>C	NP_001294881.1:p.Leu106=
NM_178232.2:c.132T>C	NP_839946.1:p.Leu44=
NM_178232.3:c.132T>C	NP_839946.1:p.Leu44=
XM_011521261.1:c.264T>C	XP_011519563.1:p.Leu88=
XR_243204.1:n.347T>C
XR_931756.1:n.453T>C
XM_017021934.2:c.318T>C	XP_016877423.1:p.Leu106=
XM_017021935.2:c.-248T>C	XP_016877424.1:n.-248T>C
XM_017021936.2:c.-248T>C	XP_016877425.1:n.-248T>C
XR_001751098.2:n.465T>C
XR_931756.3:n.466T>C
NM_001307952.2:c.318T>C	NP_001294881.1:p.Leu106=
NM_178232.4:c.132T>C MANE Select	NP_839946.1:p.Leu44=