Canonical Allele Identifier: CA367654942
Gene: GUSB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65982039C>G , CM000669.2:g.65982039C>G GRCh38
NC_000007.13:g.65447026C>G , CM000669.1:g.65447026C>G GRCh37
NC_000007.12:g.65084461C>G NCBI36
NG_016197.1:g.5276G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000304895.9:c.145G>C MANE Select ENSP00000302728.4:p.Ala49Pro
ENST00000304895.8:c.145G>C ENSP00000302728.4:p.Ala49Pro
ENST00000421103.5:c.145G>C ENSP00000391390.1:p.Ala49Pro
ENST00000430730.5:c.145G>C ENSP00000411859.1:p.Ala49Pro
ENST00000446111.1:c.145G>C ENSP00000416793.1:p.Ala49Pro
ENST00000447929.5:c.145G>C ENSP00000411262.1:p.Ala49Pro
ENST00000475316.5:n.50G>C
NM_000181.3:c.145G>C NP_000172.2:p.Ala49Pro
NM_001284290.1:c.145G>C NP_001271219.1:p.Ala49Pro
NM_001293104.1:c.-241G>C NP_001280033.1:p.=
NM_001293105.1:c.-185G>C NP_001280034.1:p.=
NR_120531.1:n.276G>C
XM_005250297.3:c.145G>C XP_005250354.1:p.Ala49Pro
XM_011516113.1:c.-185G>C XP_011514415.1:p.=
XR_927461.1:n.271G>C
XM_005250297.4:c.145G>C XP_005250354.1:p.Ala49Pro
XM_011516114.2:c.-541G>C XP_011514416.1:p.=
XM_017012091.1:c.-185G>C XP_016867580.1:p.=
XM_017012092.1:c.-241G>C XP_016867581.1:p.=
XM_017012093.2:c.-541G>C XP_016867582.1:p.=
XR_001744658.2:n.190G>C
XR_001744659.2:n.190G>C
XR_001744660.2:n.190G>C
XR_001744661.2:n.190G>C
XR_927461.3:n.190G>C
NM_000181.4:c.145G>C MANE Select NP_000172.2:p.Ala49Pro
NM_001284290.2:c.145G>C NP_001271219.1:p.Ala49Pro
NM_001293104.2:c.-241G>C NP_001280033.1:p.=
NM_001293105.2:c.-185G>C NP_001280034.1:p.=
NR_120531.2:n.175G>C