Canonical Allele Identifier: CA393733453
Gene: HAPLN3 HGNC NCBI

Linked Data

dbSNP Id: rs2141658814

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88881390C>T , CM000677.2:g.88881390C>T GRCh38
NC_000015.9:g.89424621C>T , CM000677.1:g.89424621C>T GRCh37
NC_000015.8:g.87225625C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359595.8:c.460G>A MANE Select ENSP00000352606.4:p.Asp154Asn
ENST00000359595.7:c.460G>A ENSP00000352606.3:p.Asp154Asn
ENST00000558770.5:c.460G>A ENSP00000456458.1:p.Asp154Asn
ENST00000562281.1:c.460G>A ENSP00000456985.1:p.Asp154Asn
ENST00000562889.5:c.646G>A ENSP00000457180.1:p.Asp216Asn
ENST00000563808.1:n.562G>A
NM_001307952.1:c.646G>A NP_001294881.1:p.Asp216Asn
NM_178232.2:c.460G>A NP_839946.1:p.Asp154Asn
NM_178232.3:c.460G>A NP_839946.1:p.Asp154Asn
XM_011521261.1:c.592G>A XP_011519563.1:p.Asp198Asn
XR_243204.1:n.675G>A
XR_931756.1:n.781G>A
XM_017021934.2:c.646G>A XP_016877423.1:p.Asp216Asn
XM_017021935.2:c.81G>A XP_016877424.1:p.Arg27=
XM_017021936.2:c.81G>A XP_016877425.1:p.Arg27=
XR_001751098.2:n.793G>A
XR_931756.3:n.794G>A
NM_001307952.2:c.646G>A NP_001294881.1:p.Asp216Asn
NM_178232.4:c.460G>A MANE Select NP_839946.1:p.Asp154Asn