Canonical Allele Identifier: CA393733482

Gene: HAPLN3

Linked Data

• gnomAD v4: 15-88881404-A-C
• MyVariant Identifiers: chr15:g.89424635A>C (hg19) ; chr15:g.88881404A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881404A>C , CM000677.2:g.88881404A>C	GRCh38
NC_000015.9:g.89424635A>C , CM000677.1:g.89424635A>C	GRCh37
NC_000015.8:g.87225639A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.446T>G MANE Select	ENSP00000352606.4:p.Ile149Ser
ENST00000359595.7:c.446T>G	ENSP00000352606.3:p.Ile149Ser
ENST00000558770.5:c.446T>G	ENSP00000456458.1:p.Ile149Ser
ENST00000562281.1:c.446T>G	ENSP00000456985.1:p.Ile149Ser
ENST00000562889.5:c.632T>G	ENSP00000457180.1:p.Ile211Ser
ENST00000563808.1:n.548T>G
NM_001307952.1:c.632T>G	NP_001294881.1:p.Ile211Ser
NM_178232.2:c.446T>G	NP_839946.1:p.Ile149Ser
NM_178232.3:c.446T>G	NP_839946.1:p.Ile149Ser
XM_011521261.1:c.578T>G	XP_011519563.1:p.Ile193Ser
XR_243204.1:n.661T>G
XR_931756.1:n.767T>G
XM_017021934.2:c.632T>G	XP_016877423.1:p.Ile211Ser
XM_017021935.2:c.67T>G	XP_016877424.1:p.Leu23Val
XM_017021936.2:c.67T>G	XP_016877425.1:p.Leu23Val
XR_001751098.2:n.779T>G
XR_931756.3:n.780T>G
NM_001307952.2:c.632T>G	NP_001294881.1:p.Ile211Ser
NM_178232.4:c.446T>G MANE Select	NP_839946.1:p.Ile149Ser