Canonical Allele Identifier: CA393733770
Gene: HAPLN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88881548A>G , CM000677.2:g.88881548A>G GRCh38
NC_000015.9:g.89424779A>G , CM000677.1:g.89424779A>G GRCh37
NC_000015.8:g.87225783A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359595.8:c.302T>C MANE Select ENSP00000352606.4:p.Val101Ala
ENST00000359595.7:c.302T>C ENSP00000352606.3:p.Val101Ala
ENST00000558770.5:c.302T>C ENSP00000456458.1:p.Val101Ala
ENST00000562281.1:c.302T>C ENSP00000456985.1:p.Val101Ala
ENST00000562889.5:c.488T>C ENSP00000457180.1:p.Val163Ala
ENST00000563808.1:n.404T>C
NM_001307952.1:c.488T>C NP_001294881.1:p.Val163Ala
NM_178232.2:c.302T>C NP_839946.1:p.Val101Ala
NM_178232.3:c.302T>C NP_839946.1:p.Val101Ala
XM_011521261.1:c.434T>C XP_011519563.1:p.Val145Ala
XR_243204.1:n.517T>C
XR_931756.1:n.623T>C
XM_017021934.2:c.488T>C XP_016877423.1:p.Val163Ala
XM_017021935.2:c.-78T>C XP_016877424.1:n.-78T>C
XM_017021936.2:c.-78T>C XP_016877425.1:n.-78T>C
XR_001751098.2:n.635T>C
XR_931756.3:n.636T>C
NM_001307952.2:c.488T>C NP_001294881.1:p.Val163Ala
NM_178232.4:c.302T>C MANE Select NP_839946.1:p.Val101Ala