Canonical Allele Identifier: CA455442471

Gene: GUSB

Linked Data

• gnomAD v4: 7-65967818-G-T
• MyVariant Identifiers: chr7:g.65432805G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967818G>T , CM000669.2:g.65967818G>T	GRCh38
NC_000007.13:g.65432805G>T , CM000669.1:g.65432805G>T	GRCh37
NC_000007.12:g.65070240G>T	NCBI36
NG_016197.1:g.19497C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1566C>A MANE Select	ENSP00000302728.4:p.Ala522=
ENST00000304895.8:c.1566C>A	ENSP00000302728.4:p.Ala522=
ENST00000421103.5:c.1128C>A	ENSP00000391390.1:p.Ala376=
ENST00000430730.5:c.*833C>A	ENSP00000411859.1:n.*833C>A
ENST00000447929.5:c.*946C>A	ENSP00000411262.1:n.*946C>A
ENST00000461622.1:n.91C>A
ENST00000462371.1:n.604C>A
ENST00000466883.5:n.1956C>A
NM_000181.3:c.1566C>A	NP_000172.2:p.Ala522=
NM_001284290.1:c.1128C>A	NP_001271219.1:p.Ala376=
NM_001293104.1:c.996C>A	NP_001280033.1:p.Ala332=
NM_001293105.1:c.909C>A	NP_001280034.1:p.Ala303=
NR_120531.1:n.1612C>A
XM_005250297.3:c.1413C>A	XP_005250354.1:p.Ala471=
XM_011516113.1:c.1065C>A	XP_011514415.1:p.Ala355=
XM_011516114.1:c.894C>A	XP_011514416.1:p.Ala298=
XR_927461.1:n.1652C>A
XM_005250297.4:c.1413C>A	XP_005250354.1:p.Ala471=
XM_011516114.2:c.894C>A	XP_011514416.1:p.Ala298=
XM_017012091.1:c.912C>A	XP_016867580.1:p.Ala304=
XM_017012092.1:c.843C>A	XP_016867581.1:p.Ala281=
XM_017012093.2:c.741C>A	XP_016867582.1:p.Ala247=
XR_001744658.2:n.1373C>A
XR_001744659.2:n.1486C>A
XR_001744660.2:n.1418C>A
XR_001744661.2:n.1333C>A
XR_927461.3:n.1571C>A
NM_000181.4:c.1566C>A MANE Select	NP_000172.2:p.Ala522=
NM_001284290.2:c.1128C>A	NP_001271219.1:p.Ala376=
NM_001293104.2:c.996C>A	NP_001280033.1:p.Ala332=
NM_001293105.2:c.909C>A	NP_001280034.1:p.Ala303=
NR_120531.2:n.1511C>A