Canonical Allele Identifier: CA1102383791

Gene: GUSB

Linked Data

• dbSNP Id: rs1790425582
• gnomAD v3: 7-65960695-C-T
• gnomAD v4: 7-65960695-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960695C>T , CM000669.2:g.65960695C>T	GRCh38
NC_000007.13:g.65425682C>T , CM000669.1:g.65425682C>T	GRCh37
NC_000007.12:g.65063117C>T	NCBI36
NG_016197.1:g.26620G>A
NG_051954.1:g.92597C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.*202G>A MANE Select	ENSP00000302728.4:n.*202G>A
ENST00000304895.8:c.*202G>A	ENSP00000302728.4:n.*202G>A
ENST00000466883.5:n.2548G>A
NM_000181.3:c.*202G>A	NP_000172.2:n.*202G>A
NM_001284290.1:c.*202G>A	NP_001271219.1:n.*202G>A
NM_001293104.1:c.*202G>A	NP_001280033.1:n.*202G>A
NM_001293105.1:c.*202G>A	NP_001280034.1:n.*202G>A
NR_120531.1:n.2204G>A
XM_005250297.3:c.*202G>A	XP_005250354.1:n.*202G>A
XM_011516113.1:c.*202G>A	XP_011514415.1:n.*202G>A
XM_011516114.1:c.*202G>A	XP_011514416.1:n.*202G>A
XM_005250297.4:c.*202G>A	XP_005250354.1:n.*202G>A
XM_011516114.2:c.*202G>A	XP_011514416.1:n.*202G>A
XM_017012091.1:c.*202G>A	XP_016867580.1:n.*202G>A
XM_017012092.1:c.*202G>A	XP_016867581.1:n.*202G>A
XM_017012093.2:c.*202G>A	XP_016867582.1:n.*202G>A
XR_001744658.2:n.1965G>A
XR_001744659.2:n.2078G>A
XR_001744660.2:n.2010G>A
XR_001744661.2:n.1925G>A
XR_927461.3:n.2163G>A
NM_000181.4:c.*202G>A MANE Select	NP_000172.2:n.*202G>A
NM_001284290.2:c.*202G>A	NP_001271219.1:n.*202G>A
NM_001293104.2:c.*202G>A	NP_001280033.1:n.*202G>A
NM_001293105.2:c.*202G>A	NP_001280034.1:n.*202G>A
NR_120531.2:n.2103G>A