Canonical Allele Identifier: CA492288415

Gene: HAPLN3

Linked Data

• MyVariant Identifiers: chr15:g.89424724C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881493C>A , CM000677.2:g.88881493C>A	GRCh38
NC_000015.9:g.89424724C>A , CM000677.1:g.89424724C>A	GRCh37
NC_000015.8:g.87225728C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.357G>T MANE Select	ENSP00000352606.4:p.Val119=
ENST00000359595.7:c.357G>T	ENSP00000352606.3:p.Val119=
ENST00000558770.5:c.357G>T	ENSP00000456458.1:p.Val119=
ENST00000562281.1:c.357G>T	ENSP00000456985.1:p.Val119=
ENST00000562889.5:c.543G>T	ENSP00000457180.1:p.Val181=
ENST00000563808.1:n.459G>T
NM_001307952.1:c.543G>T	NP_001294881.1:p.Val181=
NM_178232.2:c.357G>T	NP_839946.1:p.Val119=
NM_178232.3:c.357G>T	NP_839946.1:p.Val119=
XM_011521261.1:c.489G>T	XP_011519563.1:p.Val163=
XR_243204.1:n.572G>T
XR_931756.1:n.678G>T
XM_017021934.2:c.543G>T	XP_016877423.1:p.Val181=
XM_017021935.2:c.-23G>T	XP_016877424.1:n.-23G>T
XM_017021936.2:c.-23G>T	XP_016877425.1:n.-23G>T
XR_001751098.2:n.690G>T
XR_931756.3:n.691G>T
NM_001307952.2:c.543G>T	NP_001294881.1:p.Val181=
NM_178232.4:c.357G>T MANE Select	NP_839946.1:p.Val119=