Canonical Allele Identifier: CA393733569

Gene: HAPLN3

Linked Data

• MyVariant Identifiers: chr15:g.89424679C>A (hg19) ; chr15:g.88881448C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881448C>A , CM000677.2:g.88881448C>A	GRCh38
NC_000015.9:g.89424679C>A , CM000677.1:g.89424679C>A	GRCh37
NC_000015.8:g.87225683C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.402G>T MANE Select	ENSP00000352606.4:p.Gln134His
ENST00000359595.7:c.402G>T	ENSP00000352606.3:p.Gln134His
ENST00000558770.5:c.402G>T	ENSP00000456458.1:p.Gln134His
ENST00000562281.1:c.402G>T	ENSP00000456985.1:p.Gln134His
ENST00000562889.5:c.588G>T	ENSP00000457180.1:p.Gln196His
ENST00000563808.1:n.504G>T
NM_001307952.1:c.588G>T	NP_001294881.1:p.Gln196His
NM_178232.2:c.402G>T	NP_839946.1:p.Gln134His
NM_178232.3:c.402G>T	NP_839946.1:p.Gln134His
XM_011521261.1:c.534G>T	XP_011519563.1:p.Gln178His
XR_243204.1:n.617G>T
XR_931756.1:n.723G>T
XM_017021934.2:c.588G>T	XP_016877423.1:p.Gln196His
XM_017021935.2:c.23G>T	XP_016877424.1:p.Arg8Met
XM_017021936.2:c.23G>T	XP_016877425.1:p.Arg8Met
XR_001751098.2:n.735G>T
XR_931756.3:n.736G>T
NM_001307952.2:c.588G>T	NP_001294881.1:p.Gln196His
NM_178232.4:c.402G>T MANE Select	NP_839946.1:p.Gln134His