Canonical Allele Identifier: CA393734012
Gene: HAPLN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88881671G>C , CM000677.2:g.88881671G>C GRCh38
NC_000015.9:g.89424902G>C , CM000677.1:g.89424902G>C GRCh37
NC_000015.8:g.87225906G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359595.8:c.179C>G MANE Select ENSP00000352606.4:p.Thr60Ser
ENST00000359595.7:c.179C>G ENSP00000352606.3:p.Thr60Ser
ENST00000558770.5:c.179C>G ENSP00000456458.1:p.Thr60Ser
ENST00000562281.1:c.179C>G ENSP00000456985.1:p.Thr60Ser
ENST00000562889.5:c.365C>G ENSP00000457180.1:p.Thr122Ser
ENST00000563808.1:n.281C>G
NM_001307952.1:c.365C>G NP_001294881.1:p.Thr122Ser
NM_178232.2:c.179C>G NP_839946.1:p.Thr60Ser
NM_178232.3:c.179C>G NP_839946.1:p.Thr60Ser
XM_011521261.1:c.311C>G XP_011519563.1:p.Thr104Ser
XR_243204.1:n.394C>G
XR_931756.1:n.500C>G
XM_017021934.2:c.365C>G XP_016877423.1:p.Thr122Ser
XM_017021935.2:c.-201C>G XP_016877424.1:n.-201C>G
XM_017021936.2:c.-201C>G XP_016877425.1:n.-201C>G
XR_001751098.2:n.512C>G
XR_931756.3:n.513C>G
NM_001307952.2:c.365C>G NP_001294881.1:p.Thr122Ser
NM_178232.4:c.179C>G MANE Select NP_839946.1:p.Thr60Ser