Canonical Allele Identifier: CA393734028

Gene: HAPLN3

Linked Data

• gnomAD v4: 15-88881678-G-C
• MyVariant Identifiers: chr15:g.89424909G>C (hg19) ; chr15:g.88881678G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881678G>C , CM000677.2:g.88881678G>C	GRCh38
NC_000015.9:g.89424909G>C , CM000677.1:g.89424909G>C	GRCh37
NC_000015.8:g.87225913G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.172C>G MANE Select	ENSP00000352606.4:p.Leu58Val
ENST00000359595.7:c.172C>G	ENSP00000352606.3:p.Leu58Val
ENST00000558770.5:c.172C>G	ENSP00000456458.1:p.Leu58Val
ENST00000562281.1:c.172C>G	ENSP00000456985.1:p.Leu58Val
ENST00000562889.5:c.358C>G	ENSP00000457180.1:p.Leu120Val
ENST00000563808.1:n.274C>G
NM_001307952.1:c.358C>G	NP_001294881.1:p.Leu120Val
NM_178232.2:c.172C>G	NP_839946.1:p.Leu58Val
NM_178232.3:c.172C>G	NP_839946.1:p.Leu58Val
XM_011521261.1:c.304C>G	XP_011519563.1:p.Leu102Val
XR_243204.1:n.387C>G
XR_931756.1:n.493C>G
XM_017021934.2:c.358C>G	XP_016877423.1:p.Leu120Val
XM_017021935.2:c.-208C>G	XP_016877424.1:n.-208C>G
XM_017021936.2:c.-208C>G	XP_016877425.1:n.-208C>G
XR_001751098.2:n.505C>G
XR_931756.3:n.506C>G
NM_001307952.2:c.358C>G	NP_001294881.1:p.Leu120Val
NM_178232.4:c.172C>G MANE Select	NP_839946.1:p.Leu58Val