Canonical Allele Identifier: CA367637282

Gene: GUSB

Linked Data

• gnomAD v4: 7-65960981-C-G
• MyVariant Identifiers: chr7:g.65425968C>G (hg19) ; chr7:g.65960981C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960981C>G , CM000669.2:g.65960981C>G	GRCh38
NC_000007.13:g.65425968C>G , CM000669.1:g.65425968C>G	GRCh37
NC_000007.12:g.65063403C>G	NCBI36
NG_016197.1:g.26334G>C
NG_051954.1:g.92883C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1872G>C MANE Select	ENSP00000302728.4:p.Glu624Asp
ENST00000304895.8:c.1872G>C	ENSP00000302728.4:p.Glu624Asp
ENST00000421103.5:c.1434G>C	ENSP00000391390.1:p.Glu478Asp
ENST00000430730.5:c.*1139G>C	ENSP00000411859.1:n.*1139G>C
ENST00000447929.5:c.*1252G>C	ENSP00000411262.1:n.*1252G>C
ENST00000466883.5:n.2262G>C
NM_000181.3:c.1872G>C	NP_000172.2:p.Glu624Asp
NM_001284290.1:c.1434G>C	NP_001271219.1:p.Glu478Asp
NM_001293104.1:c.1302G>C	NP_001280033.1:p.Glu434Asp
NM_001293105.1:c.1215G>C	NP_001280034.1:p.Glu405Asp
NR_120531.1:n.1918G>C
XM_005250297.3:c.1719G>C	XP_005250354.1:p.Glu573Asp
XM_011516113.1:c.1371G>C	XP_011514415.1:p.Glu457Asp
XM_011516114.1:c.1200G>C	XP_011514416.1:p.Glu400Asp
XM_005250297.4:c.1719G>C	XP_005250354.1:p.Glu573Asp
XM_011516114.2:c.1200G>C	XP_011514416.1:p.Glu400Asp
XM_017012091.1:c.1218G>C	XP_016867580.1:p.Glu406Asp
XM_017012092.1:c.1149G>C	XP_016867581.1:p.Glu383Asp
XM_017012093.2:c.1047G>C	XP_016867582.1:p.Glu349Asp
XR_001744658.2:n.1679G>C
XR_001744659.2:n.1792G>C
XR_001744660.2:n.1724G>C
XR_001744661.2:n.1639G>C
XR_927461.3:n.1877G>C
NM_000181.4:c.1872G>C MANE Select	NP_000172.2:p.Glu624Asp
NM_001284290.2:c.1434G>C	NP_001271219.1:p.Glu478Asp
NM_001293104.2:c.1302G>C	NP_001280033.1:p.Glu434Asp
NM_001293105.2:c.1215G>C	NP_001280034.1:p.Glu405Asp
NR_120531.2:n.1817G>C