Canonical Allele Identifier: CA492288423
Gene: HAPLN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.89424733T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88881502T>C , CM000677.2:g.88881502T>C GRCh38
NC_000015.9:g.89424733T>C , CM000677.1:g.89424733T>C GRCh37
NC_000015.8:g.87225737T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359595.8:c.348A>G MANE Select ENSP00000352606.4:p.Gln116=
ENST00000359595.7:c.348A>G ENSP00000352606.3:p.Gln116=
ENST00000558770.5:c.348A>G ENSP00000456458.1:p.Gln116=
ENST00000562281.1:c.348A>G ENSP00000456985.1:p.Gln116=
ENST00000562889.5:c.534A>G ENSP00000457180.1:p.Gln178=
ENST00000563808.1:n.450A>G
NM_001307952.1:c.534A>G NP_001294881.1:p.Gln178=
NM_178232.2:c.348A>G NP_839946.1:p.Gln116=
NM_178232.3:c.348A>G NP_839946.1:p.Gln116=
XM_011521261.1:c.480A>G XP_011519563.1:p.Gln160=
XR_243204.1:n.563A>G
XR_931756.1:n.669A>G
XM_017021934.2:c.534A>G XP_016877423.1:p.Gln178=
XM_017021935.2:c.-32A>G XP_016877424.1:n.-32A>G
XM_017021936.2:c.-32A>G XP_016877425.1:n.-32A>G
XR_001751098.2:n.681A>G
XR_931756.3:n.682A>G
NM_001307952.2:c.534A>G NP_001294881.1:p.Gln178=
NM_178232.4:c.348A>G MANE Select NP_839946.1:p.Gln116=