Canonical Allele Identifier: CA393734000
Gene: HAPLN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88881666G>A , CM000677.2:g.88881666G>A GRCh38
NC_000015.9:g.89424897G>A , CM000677.1:g.89424897G>A GRCh37
NC_000015.8:g.87225901G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359595.8:c.184C>T MANE Select ENSP00000352606.4:p.Gln62Ter
ENST00000359595.7:c.184C>T ENSP00000352606.3:p.Gln62Ter
ENST00000558770.5:c.184C>T ENSP00000456458.1:p.Gln62Ter
ENST00000562281.1:c.184C>T ENSP00000456985.1:p.Gln62Ter
ENST00000562889.5:c.370C>T ENSP00000457180.1:p.Gln124Ter
ENST00000563808.1:n.286C>T
NM_001307952.1:c.370C>T NP_001294881.1:p.Gln124Ter
NM_178232.2:c.184C>T NP_839946.1:p.Gln62Ter
NM_178232.3:c.184C>T NP_839946.1:p.Gln62Ter
XM_011521261.1:c.316C>T XP_011519563.1:p.Gln106Ter
XR_243204.1:n.399C>T
XR_931756.1:n.505C>T
XM_017021934.2:c.370C>T XP_016877423.1:p.Gln124Ter
XM_017021935.2:c.-196C>T XP_016877424.1:n.-196C>T
XM_017021936.2:c.-196C>T XP_016877425.1:n.-196C>T
XR_001751098.2:n.517C>T
XR_931756.3:n.518C>T
NM_001307952.2:c.370C>T NP_001294881.1:p.Gln124Ter
NM_178232.4:c.184C>T MANE Select NP_839946.1:p.Gln62Ter