Canonical Allele Identifier: CA492288392

Gene: HAPLN3

Linked Data

• MyVariant Identifiers: chr15:g.89424682G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881451G>T , CM000677.2:g.88881451G>T	GRCh38
NC_000015.9:g.89424682G>T , CM000677.1:g.89424682G>T	GRCh37
NC_000015.8:g.87225686G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.399C>A MANE Select	ENSP00000352606.4:p.Ile133=
ENST00000359595.7:c.399C>A	ENSP00000352606.3:p.Ile133=
ENST00000558770.5:c.399C>A	ENSP00000456458.1:p.Ile133=
ENST00000562281.1:c.399C>A	ENSP00000456985.1:p.Ile133=
ENST00000562889.5:c.585C>A	ENSP00000457180.1:p.Ile195=
ENST00000563808.1:n.501C>A
NM_001307952.1:c.585C>A	NP_001294881.1:p.Ile195=
NM_178232.2:c.399C>A	NP_839946.1:p.Ile133=
NM_178232.3:c.399C>A	NP_839946.1:p.Ile133=
XM_011521261.1:c.531C>A	XP_011519563.1:p.Ile177=
XR_243204.1:n.614C>A
XR_931756.1:n.720C>A
XM_017021934.2:c.585C>A	XP_016877423.1:p.Ile195=
XM_017021935.2:c.20C>A	XP_016877424.1:p.Ser7Tyr
XM_017021936.2:c.20C>A	XP_016877425.1:p.Ser7Tyr
XR_001751098.2:n.732C>A
XR_931756.3:n.733C>A
NM_001307952.2:c.585C>A	NP_001294881.1:p.Ile195=
NM_178232.4:c.399C>A MANE Select	NP_839946.1:p.Ile133=