Canonical Allele Identifier: CA492288632

Gene: HAPLN3

Linked Data

• dbSNP Id: rs1166668848
• gnomAD v3: 15-88881652-C-T
• gnomAD v4: 15-88881652-C-T
• MyVariant Identifiers: chr15:g.89424883C>T (hg19) ; chr15:g.88881652C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881652C>T , CM000677.2:g.88881652C>T	GRCh38
NC_000015.9:g.89424883C>T , CM000677.1:g.89424883C>T	GRCh37
NC_000015.8:g.87225887C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.198G>A MANE Select	ENSP00000352606.4:p.Val66=
ENST00000359595.7:c.198G>A	ENSP00000352606.3:p.Val66=
ENST00000558770.5:c.198G>A	ENSP00000456458.1:p.Val66=
ENST00000562281.1:c.198G>A	ENSP00000456985.1:p.Val66=
ENST00000562889.5:c.384G>A	ENSP00000457180.1:p.Val128=
ENST00000563808.1:n.300G>A
NM_001307952.1:c.384G>A	NP_001294881.1:p.Val128=
NM_178232.2:c.198G>A	NP_839946.1:p.Val66=
NM_178232.3:c.198G>A	NP_839946.1:p.Val66=
XM_011521261.1:c.330G>A	XP_011519563.1:p.Val110=
XR_243204.1:n.413G>A
XR_931756.1:n.519G>A
XM_017021934.2:c.384G>A	XP_016877423.1:p.Val128=
XM_017021935.2:c.-182G>A	XP_016877424.1:n.-182G>A
XM_017021936.2:c.-182G>A	XP_016877425.1:n.-182G>A
XR_001751098.2:n.531G>A
XR_931756.3:n.532G>A
NM_001307952.2:c.384G>A	NP_001294881.1:p.Val128=
NM_178232.4:c.198G>A MANE Select	NP_839946.1:p.Val66=