Canonical Allele Identifier: CA393733973

Gene: HAPLN3

Linked Data

• MyVariant Identifiers: chr15:g.89424884A>C (hg19) ; chr15:g.88881653A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881653A>C , CM000677.2:g.88881653A>C	GRCh38
NC_000015.9:g.89424884A>C , CM000677.1:g.89424884A>C	GRCh37
NC_000015.8:g.87225888A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.197T>G MANE Select	ENSP00000352606.4:p.Val66Gly
ENST00000359595.7:c.197T>G	ENSP00000352606.3:p.Val66Gly
ENST00000558770.5:c.197T>G	ENSP00000456458.1:p.Val66Gly
ENST00000562281.1:c.197T>G	ENSP00000456985.1:p.Val66Gly
ENST00000562889.5:c.383T>G	ENSP00000457180.1:p.Val128Gly
ENST00000563808.1:n.299T>G
NM_001307952.1:c.383T>G	NP_001294881.1:p.Val128Gly
NM_178232.2:c.197T>G	NP_839946.1:p.Val66Gly
NM_178232.3:c.197T>G	NP_839946.1:p.Val66Gly
XM_011521261.1:c.329T>G	XP_011519563.1:p.Val110Gly
XR_243204.1:n.412T>G
XR_931756.1:n.518T>G
XM_017021934.2:c.383T>G	XP_016877423.1:p.Val128Gly
XM_017021935.2:c.-183T>G	XP_016877424.1:n.-183T>G
XM_017021936.2:c.-183T>G	XP_016877425.1:n.-183T>G
XR_001751098.2:n.530T>G
XR_931756.3:n.531T>G
NM_001307952.2:c.383T>G	NP_001294881.1:p.Val128Gly
NM_178232.4:c.197T>G MANE Select	NP_839946.1:p.Val66Gly