Canonical Allele Identifier: CA393734075

Gene: HAPLN3

Linked Data

• MyVariant Identifiers: chr15:g.89424932A>T (hg19) ; chr15:g.88881701A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881701A>T , CM000677.2:g.88881701A>T	GRCh38
NC_000015.9:g.89424932A>T , CM000677.1:g.89424932A>T	GRCh37
NC_000015.8:g.87225936A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.149T>A MANE Select	ENSP00000352606.4:p.Val50Glu
ENST00000359595.7:c.149T>A	ENSP00000352606.3:p.Val50Glu
ENST00000558770.5:c.149T>A	ENSP00000456458.1:p.Val50Glu
ENST00000562281.1:c.149T>A	ENSP00000456985.1:p.Val50Glu
ENST00000562889.5:c.335T>A	ENSP00000457180.1:p.Val112Glu
ENST00000563808.1:n.251T>A
NM_001307952.1:c.335T>A	NP_001294881.1:p.Val112Glu
NM_178232.2:c.149T>A	NP_839946.1:p.Val50Glu
NM_178232.3:c.149T>A	NP_839946.1:p.Val50Glu
XM_011521261.1:c.281T>A	XP_011519563.1:p.Val94Glu
XR_243204.1:n.364T>A
XR_931756.1:n.470T>A
XM_017021934.2:c.335T>A	XP_016877423.1:p.Val112Glu
XM_017021935.2:c.-231T>A	XP_016877424.1:n.-231T>A
XM_017021936.2:c.-231T>A	XP_016877425.1:n.-231T>A
XR_001751098.2:n.482T>A
XR_931756.3:n.483T>A
NM_001307952.2:c.335T>A	NP_001294881.1:p.Val112Glu
NM_178232.4:c.149T>A MANE Select	NP_839946.1:p.Val50Glu