Canonical Allele Identifier: CA7721138
Gene: HAPLN3 HGNC NCBI

Linked Data

dbSNP Id: rs141308595

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88881639G>T , CM000677.2:g.88881639G>T GRCh38
NC_000015.9:g.89424870G>T , CM000677.1:g.89424870G>T GRCh37
NC_000015.8:g.87225874G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000359595.8:c.211C>A MANE Select ENSP00000352606.4:p.Arg71Ser
ENST00000359595.7:c.211C>A ENSP00000352606.3:p.Arg71Ser
ENST00000558770.5:c.211C>A ENSP00000456458.1:p.Arg71Ser
ENST00000562281.1:c.211C>A ENSP00000456985.1:p.Arg71Ser
ENST00000562889.5:c.397C>A ENSP00000457180.1:p.Arg133Ser
ENST00000563808.1:n.313C>A
NM_001307952.1:c.397C>A NP_001294881.1:p.Arg133Ser
NM_178232.2:c.211C>A NP_839946.1:p.Arg71Ser
NM_178232.3:c.211C>A NP_839946.1:p.Arg71Ser
XM_011521261.1:c.343C>A XP_011519563.1:p.Arg115Ser
XR_243204.1:n.426C>A
XR_931756.1:n.532C>A
XM_017021934.2:c.397C>A XP_016877423.1:p.Arg133Ser
XM_017021935.2:c.-169C>A XP_016877424.1:n.-169C>A
XM_017021936.2:c.-169C>A XP_016877425.1:n.-169C>A
XR_001751098.2:n.544C>A
XR_931756.3:n.545C>A
NM_001307952.2:c.397C>A NP_001294881.1:p.Arg133Ser
NM_178232.4:c.211C>A MANE Select NP_839946.1:p.Arg71Ser