Canonical Allele Identifier: CA492288371
Gene: HAPLN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.89424652A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88881421A>C , CM000677.2:g.88881421A>C GRCh38
NC_000015.9:g.89424652A>C , CM000677.1:g.89424652A>C GRCh37
NC_000015.8:g.87225656A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359595.8:c.429T>G MANE Select ENSP00000352606.4:p.Arg143=
ENST00000359595.7:c.429T>G ENSP00000352606.3:p.Arg143=
ENST00000558770.5:c.429T>G ENSP00000456458.1:p.Arg143=
ENST00000562281.1:c.429T>G ENSP00000456985.1:p.Arg143=
ENST00000562889.5:c.615T>G ENSP00000457180.1:p.Arg205=
ENST00000563808.1:n.531T>G
NM_001307952.1:c.615T>G NP_001294881.1:p.Arg205=
NM_178232.2:c.429T>G NP_839946.1:p.Arg143=
NM_178232.3:c.429T>G NP_839946.1:p.Arg143=
XM_011521261.1:c.561T>G XP_011519563.1:p.Arg187=
XR_243204.1:n.644T>G
XR_931756.1:n.750T>G
XM_017021934.2:c.615T>G XP_016877423.1:p.Arg205=
XM_017021935.2:c.50T>G XP_016877424.1:p.Val17Gly
XM_017021936.2:c.50T>G XP_016877425.1:p.Val17Gly
XR_001751098.2:n.762T>G
XR_931756.3:n.763T>G
NM_001307952.2:c.615T>G NP_001294881.1:p.Arg205=
NM_178232.4:c.429T>G MANE Select NP_839946.1:p.Arg143=