Canonical Allele Identifier: CA492066358

Gene: HAPLN3

Linked Data

• MyVariant Identifiers: chr15:g.89424643A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881412A>G , CM000677.2:g.88881412A>G	GRCh38
NC_000015.9:g.89424643A>G , CM000677.1:g.89424643A>G	GRCh37
NC_000015.8:g.87225647A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.438T>C MANE Select	ENSP00000352606.4:p.Cys146=
ENST00000359595.7:c.438T>C	ENSP00000352606.3:p.Cys146=
ENST00000558770.5:c.438T>C	ENSP00000456458.1:p.Cys146=
ENST00000562281.1:c.438T>C	ENSP00000456985.1:p.Cys146=
ENST00000562889.5:c.624T>C	ENSP00000457180.1:p.Cys208=
ENST00000563808.1:n.540T>C
NM_001307952.1:c.624T>C	NP_001294881.1:p.Cys208=
NM_178232.2:c.438T>C	NP_839946.1:p.Cys146=
NM_178232.3:c.438T>C	NP_839946.1:p.Cys146=
XM_011521261.1:c.570T>C	XP_011519563.1:p.Cys190=
XR_243204.1:n.653T>C
XR_931756.1:n.759T>C
XM_017021934.2:c.624T>C	XP_016877423.1:p.Cys208=
XM_017021935.2:c.59T>C	XP_016877424.1:p.Val20Ala
XM_017021936.2:c.59T>C	XP_016877425.1:p.Val20Ala
XR_001751098.2:n.771T>C
XR_931756.3:n.772T>C
NM_001307952.2:c.624T>C	NP_001294881.1:p.Cys208=
NM_178232.4:c.438T>C MANE Select	NP_839946.1:p.Cys146=