Canonical Allele Identifier: CA393733570

Gene: HAPLN3

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.402G>C MANE Select	ENSP00000352606.4:p.Gln134His
ENST00000359595.7:c.402G>C	ENSP00000352606.3:p.Gln134His
ENST00000558770.5:c.402G>C	ENSP00000456458.1:p.Gln134His
ENST00000562281.1:c.402G>C	ENSP00000456985.1:p.Gln134His
ENST00000562889.5:c.588G>C	ENSP00000457180.1:p.Gln196His
ENST00000563808.1:n.504G>C
NM_001307952.1:c.588G>C	NP_001294881.1:p.Gln196His
NM_178232.2:c.402G>C	NP_839946.1:p.Gln134His
NM_178232.3:c.402G>C	NP_839946.1:p.Gln134His
XM_011521261.1:c.534G>C	XP_011519563.1:p.Gln178His
XR_243204.1:n.617G>C
XR_931756.1:n.723G>C
XM_017021934.2:c.588G>C	XP_016877423.1:p.Gln196His
XM_017021935.2:c.23G>C	XP_016877424.1:p.Arg8Thr
XM_017021936.2:c.23G>C	XP_016877425.1:p.Arg8Thr
XR_001751098.2:n.735G>C
XR_931756.3:n.736G>C
NM_001307952.2:c.588G>C	NP_001294881.1:p.Gln196His
NM_178232.4:c.402G>C MANE Select	NP_839946.1:p.Gln134His