Canonical Allele Identifier: CA367649708
Community Standard Title: NM_000181.4(GUSB):c.604C>T (p.Gln202Ter)
Gene: GUSB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65979519G>A , CM000669.2:g.65979519G>A GRCh38
NC_000007.13:g.65444506G>A , CM000669.1:g.65444506G>A GRCh37
NC_000007.12:g.65081941G>A NCBI36
NG_016197.1:g.7796C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000181.4:c.604C>T MANE Select NP_000172.2:p.Gln202Ter
ENST00000304895.9:c.604C>T MANE Select ENSP00000302728.4:p.Gln202Ter
NM_000181.3:c.604C>T NP_000172.2:p.Gln202Ter
NM_001284290.1:c.474+315C>T NP_001271219.1:n.474+315C>T
NM_001284290.2:c.474+315C>T NP_001271219.1:n.474+315C>T
NM_001293104.1:c.34C>T NP_001280033.1:p.Gln12Ter
NM_001293104.2:c.34C>T NP_001280033.1:p.Gln12Ter
NM_001293105.1:c.67+705C>T NP_001280034.1:n.67+705C>T
NM_001293105.2:c.67+705C>T NP_001280034.1:n.67+705C>T
NR_120531.1:n.735C>T
NR_120531.2:n.634C>T
ENST00000304895.8:c.604C>T ENSP00000302728.4:p.Gln202Ter
ENST00000421103.5:c.474+315C>T ENSP00000391390.1:n.474+315C>T
ENST00000430730.5:c.396+705C>T ENSP00000411859.1:n.396+705C>T
ENST00000446111.1:c.419C>T ENSP00000416793.1:p.Pro140Leu
ENST00000447929.5:c.419C>T ENSP00000411262.1:p.Pro140Leu
ENST00000475316.5:n.115+2455C>T
ENST00000476486.5:n.408C>T
ENST00000478118.1:n.530C>T
ENST00000479038.1:n.188+705C>T
XM_005250297.3:c.604C>T XP_005250354.1:p.Gln202Ter
XM_005250297.4:c.604C>T XP_005250354.1:p.Gln202Ter
XM_011516113.1:c.90C>T XP_011514415.1:p.Ser30=
XM_011516114.1:c.-82C>T XP_011514416.1:n.-82C>T
XM_011516114.2:c.-82C>T XP_011514416.1:n.-82C>T
XM_017012091.1:c.90C>T XP_016867580.1:p.Ser30=
XM_017012092.1:c.34C>T XP_016867581.1:p.Gln12Ter
XM_017012093.2:c.-82C>T XP_016867582.1:n.-82C>T
XR_001744658.2:n.649C>T
XR_001744659.2:n.649C>T
XR_001744660.2:n.649C>T
XR_001744661.2:n.649C>T
XR_927461.1:n.730C>T
XR_927461.3:n.649C>T