Canonical Allele Identifier: CA19103239
Community Standard Title: NM_005529.7(HSPG2):c.10032C>T (p.Thr3344=)
Gene: HSPG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21838943G>A , CM000663.2:g.21838943G>A GRCh38
NC_000001.10:g.22165436G>A , CM000663.1:g.22165436G>A GRCh37
NC_000001.9:g.22038023G>A NCBI36
NG_016740.1:g.103315C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005529.7:c.10032C>T MANE Select NP_005520.4:p.Thr3344=
ENST00000374695.8:c.10032C>T MANE Select ENSP00000363827.3:p.Thr3344=
NM_001291860.1:c.10035C>T NP_001278789.1:p.Thr3345=
NM_001291860.2:c.10035C>T NP_001278789.1:p.Thr3345=
NM_005529.6:c.10032C>T NP_005520.4:p.Thr3344=
ENST00000374676.4:c.64C>T
ENST00000374695.7:c.10032C>T ENSP00000363827.3:p.Thr3344=
XM_006710594.2:c.10578C>T XP_006710657.1:p.Thr3526=
XM_006710595.2:c.10530C>T XP_006710658.1:p.Thr3510=
XM_006710596.2:c.10509C>T XP_006710659.1:p.Thr3503=
XM_006710597.2:c.10032C>T XP_006710660.1:p.Thr3344=
XM_011541317.1:c.10581C>T XP_011539619.1:p.Thr3527=
XM_011541318.1:c.10581C>T XP_011539620.1:p.Thr3527=
XM_011541318.2:c.10581C>T XP_011539620.1:p.Thr3527=
XM_011541319.1:c.10581C>T XP_011539621.1:p.Thr3527=
XM_011541320.1:c.10302C>T XP_011539622.1:p.Thr3434=
XM_011541321.1:c.10086C>T XP_011539623.1:p.Thr3362=
XM_017001120.1:c.10227C>T XP_016856609.1:p.Thr3409=
XM_017001121.1:c.10176C>T XP_016856610.1:p.Thr3392=
XM_017001122.1:c.10173C>T XP_016856611.1:p.Thr3391=