Canonical Allele Identifier: CA492288635
Gene: HAPLN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.89424931C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88881700C>G , CM000677.2:g.88881700C>G GRCh38
NC_000015.9:g.89424931C>G , CM000677.1:g.89424931C>G GRCh37
NC_000015.8:g.87225935C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359595.8:c.150G>C MANE Select ENSP00000352606.4:p.Val50=
ENST00000359595.7:c.150G>C ENSP00000352606.3:p.Val50=
ENST00000558770.5:c.150G>C ENSP00000456458.1:p.Val50=
ENST00000562281.1:c.150G>C ENSP00000456985.1:p.Val50=
ENST00000562889.5:c.336G>C ENSP00000457180.1:p.Val112=
ENST00000563808.1:n.252G>C
NM_001307952.1:c.336G>C NP_001294881.1:p.Val112=
NM_178232.2:c.150G>C NP_839946.1:p.Val50=
NM_178232.3:c.150G>C NP_839946.1:p.Val50=
XM_011521261.1:c.282G>C XP_011519563.1:p.Val94=
XR_243204.1:n.365G>C
XR_931756.1:n.471G>C
XM_017021934.2:c.336G>C XP_016877423.1:p.Val112=
XM_017021935.2:c.-230G>C XP_016877424.1:n.-230G>C
XM_017021936.2:c.-230G>C XP_016877425.1:n.-230G>C
XR_001751098.2:n.483G>C
XR_931756.3:n.484G>C
NM_001307952.2:c.336G>C NP_001294881.1:p.Val112=
NM_178232.4:c.150G>C MANE Select NP_839946.1:p.Val50=