Canonical Allele Identifier: CA367654941
Gene: GUSB HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000304895.9:c.145G>T MANE Select ENSP00000302728.4:p.Ala49Ser
ENST00000304895.8:c.145G>T ENSP00000302728.4:p.Ala49Ser
ENST00000421103.5:c.145G>T ENSP00000391390.1:p.Ala49Ser
ENST00000430730.5:c.145G>T ENSP00000411859.1:p.Ala49Ser
ENST00000446111.1:c.145G>T ENSP00000416793.1:p.Ala49Ser
ENST00000447929.5:c.145G>T ENSP00000411262.1:p.Ala49Ser
ENST00000475316.5:n.50G>T
NM_000181.3:c.145G>T NP_000172.2:p.Ala49Ser
NM_001284290.1:c.145G>T NP_001271219.1:p.Ala49Ser
NM_001293104.1:c.-241G>T NP_001280033.1:p.=
NM_001293105.1:c.-185G>T NP_001280034.1:p.=
NR_120531.1:n.276G>T
XM_005250297.3:c.145G>T XP_005250354.1:p.Ala49Ser
XM_011516113.1:c.-185G>T XP_011514415.1:p.=
XR_927461.1:n.271G>T
XM_005250297.4:c.145G>T XP_005250354.1:p.Ala49Ser
XM_011516114.2:c.-541G>T XP_011514416.1:p.=
XM_017012091.1:c.-185G>T XP_016867580.1:p.=
XM_017012092.1:c.-241G>T XP_016867581.1:p.=
XM_017012093.2:c.-541G>T XP_016867582.1:p.=
XR_001744658.2:n.190G>T
XR_001744659.2:n.190G>T
XR_001744660.2:n.190G>T
XR_001744661.2:n.190G>T
XR_927461.3:n.190G>T
NM_000181.4:c.145G>T MANE Select NP_000172.2:p.Ala49Ser
NM_001284290.2:c.145G>T NP_001271219.1:p.Ala49Ser
NM_001293104.2:c.-241G>T NP_001280033.1:p.=
NM_001293105.2:c.-185G>T NP_001280034.1:p.=
NR_120531.2:n.175G>T