Canonical Allele Identifier: CA367637273

Gene: GUSB

Linked Data

• dbSNP Id: rs372550726
• gnomAD v3: 7-65960979-C-G
• gnomAD v4: 7-65960979-C-G
• MyVariant Identifiers: chr7:g.65425966C>G (hg19) ; chr7:g.65960979C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960979C>G , CM000669.2:g.65960979C>G	GRCh38
NC_000007.13:g.65425966C>G , CM000669.1:g.65425966C>G	GRCh37
NC_000007.12:g.65063401C>G	NCBI36
NG_016197.1:g.26336G>C
NG_051954.1:g.92881C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1874G>C MANE Select	ENSP00000302728.4:p.Arg625Thr
ENST00000304895.8:c.1874G>C	ENSP00000302728.4:p.Arg625Thr
ENST00000421103.5:c.1436G>C	ENSP00000391390.1:p.Arg479Thr
ENST00000430730.5:c.*1141G>C	ENSP00000411859.1:n.*1141G>C
ENST00000447929.5:c.*1254G>C	ENSP00000411262.1:n.*1254G>C
ENST00000466883.5:n.2264G>C
NM_000181.3:c.1874G>C	NP_000172.2:p.Arg625Thr
NM_001284290.1:c.1436G>C	NP_001271219.1:p.Arg479Thr
NM_001293104.1:c.1304G>C	NP_001280033.1:p.Arg435Thr
NM_001293105.1:c.1217G>C	NP_001280034.1:p.Arg406Thr
NR_120531.1:n.1920G>C
XM_005250297.3:c.1721G>C	XP_005250354.1:p.Arg574Thr
XM_011516113.1:c.1373G>C	XP_011514415.1:p.Arg458Thr
XM_011516114.1:c.1202G>C	XP_011514416.1:p.Arg401Thr
XM_005250297.4:c.1721G>C	XP_005250354.1:p.Arg574Thr
XM_011516114.2:c.1202G>C	XP_011514416.1:p.Arg401Thr
XM_017012091.1:c.1220G>C	XP_016867580.1:p.Arg407Thr
XM_017012092.1:c.1151G>C	XP_016867581.1:p.Arg384Thr
XM_017012093.2:c.1049G>C	XP_016867582.1:p.Arg350Thr
XR_001744658.2:n.1681G>C
XR_001744659.2:n.1794G>C
XR_001744660.2:n.1726G>C
XR_001744661.2:n.1641G>C
XR_927461.3:n.1879G>C
NM_000181.4:c.1874G>C MANE Select	NP_000172.2:p.Arg625Thr
NM_001284290.2:c.1436G>C	NP_001271219.1:p.Arg479Thr
NM_001293104.2:c.1304G>C	NP_001280033.1:p.Arg435Thr
NM_001293105.2:c.1217G>C	NP_001280034.1:p.Arg406Thr
NR_120531.2:n.1819G>C