Canonical Allele Identifier: CA393733467
Gene: HAPLN3 HGNC NCBI

Linked Data

dbSNP Id: rs1567200816

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88881396G>T , CM000677.2:g.88881396G>T GRCh38
NC_000015.9:g.89424627G>T , CM000677.1:g.89424627G>T GRCh37
NC_000015.8:g.87225631G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359595.8:c.454C>A MANE Select ENSP00000352606.4:p.Leu152Met
ENST00000359595.7:c.454C>A ENSP00000352606.3:p.Leu152Met
ENST00000558770.5:c.454C>A ENSP00000456458.1:p.Leu152Met
ENST00000562281.1:c.454C>A ENSP00000456985.1:p.Leu152Met
ENST00000562889.5:c.640C>A ENSP00000457180.1:p.Leu214Met
ENST00000563808.1:n.556C>A
NM_001307952.1:c.640C>A NP_001294881.1:p.Leu214Met
NM_178232.2:c.454C>A NP_839946.1:p.Leu152Met
NM_178232.3:c.454C>A NP_839946.1:p.Leu152Met
XM_011521261.1:c.586C>A XP_011519563.1:p.Leu196Met
XR_243204.1:n.669C>A
XR_931756.1:n.775C>A
XM_017021934.2:c.640C>A XP_016877423.1:p.Leu214Met
XM_017021935.2:c.75C>A XP_016877424.1:p.Gly25=
XM_017021936.2:c.75C>A XP_016877425.1:p.Gly25=
XR_001751098.2:n.787C>A
XR_931756.3:n.788C>A
NM_001307952.2:c.640C>A NP_001294881.1:p.Leu214Met
NM_178232.4:c.454C>A MANE Select NP_839946.1:p.Leu152Met