Canonical Allele Identifier: CA7721047

Gene: HAPLN3

Linked Data

• dbSNP Id: rs777163714
• ExAC: 15:89424591 G / A
• gnomAD v2: 15-89424591-G-A
• gnomAD v4: 15-88881360-G-A
• MyVariant Identifiers: chr15:g.89424591G>A (hg19) ; chr15:g.89424591_89424597delinsACAGCTC (hg19) ; chr15:g.88881360G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881360G>A , CM000677.2:g.88881360G>A	GRCh38
NC_000015.9:g.89424591G>A , CM000677.1:g.89424591G>A	GRCh37
NC_000015.8:g.87225595G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.490C>T MANE Select	ENSP00000352606.4:p.Arg164Trp
ENST00000359595.7:c.490C>T	ENSP00000352606.3:p.Arg164Trp
ENST00000558770.5:c.490C>T	ENSP00000456458.1:p.Arg164Trp
ENST00000562281.1:c.490C>T	ENSP00000456985.1:p.Arg164Trp
ENST00000562889.5:c.676C>T	ENSP00000457180.1:p.Arg226Trp
ENST00000563808.1:n.592C>T
NM_001307952.1:c.676C>T	NP_001294881.1:p.Arg226Trp
NM_178232.2:c.490C>T	NP_839946.1:p.Arg164Trp
NM_178232.3:c.490C>T	NP_839946.1:p.Arg164Trp
XM_011521261.1:c.622C>T	XP_011519563.1:p.Arg208Trp
XR_243204.1:n.705C>T
XR_931756.1:n.811C>T
XM_017021934.2:c.676C>T	XP_016877423.1:p.Arg226Trp
XM_017021935.2:c.111C>T	XP_016877424.1:p.Cys37=
XM_017021936.2:c.111C>T	XP_016877425.1:p.Cys37=
XR_001751098.2:n.823C>T
XR_931756.3:n.824C>T
NM_001307952.2:c.676C>T	NP_001294881.1:p.Arg226Trp
NM_178232.4:c.490C>T MANE Select	NP_839946.1:p.Arg164Trp