Canonical Allele Identifier: CA492288597
Gene: HAPLN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.89424910G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88881679G>T , CM000677.2:g.88881679G>T GRCh38
NC_000015.9:g.89424910G>T , CM000677.1:g.89424910G>T GRCh37
NC_000015.8:g.87225914G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359595.8:c.171C>A MANE Select ENSP00000352606.4:p.Thr57=
ENST00000359595.7:c.171C>A ENSP00000352606.3:p.Thr57=
ENST00000558770.5:c.171C>A ENSP00000456458.1:p.Thr57=
ENST00000562281.1:c.171C>A ENSP00000456985.1:p.Thr57=
ENST00000562889.5:c.357C>A ENSP00000457180.1:p.Thr119=
ENST00000563808.1:n.273C>A
NM_001307952.1:c.357C>A NP_001294881.1:p.Thr119=
NM_178232.2:c.171C>A NP_839946.1:p.Thr57=
NM_178232.3:c.171C>A NP_839946.1:p.Thr57=
XM_011521261.1:c.303C>A XP_011519563.1:p.Thr101=
XR_243204.1:n.386C>A
XR_931756.1:n.492C>A
XM_017021934.2:c.357C>A XP_016877423.1:p.Thr119=
XM_017021935.2:c.-209C>A XP_016877424.1:n.-209C>A
XM_017021936.2:c.-209C>A XP_016877425.1:n.-209C>A
XR_001751098.2:n.504C>A
XR_931756.3:n.505C>A
NM_001307952.2:c.357C>A NP_001294881.1:p.Thr119=
NM_178232.4:c.171C>A MANE Select NP_839946.1:p.Thr57=