Canonical Allele Identifier: CA4276145

Gene: GUSB

Linked Data

• ClinVar Variation Id: 2206855
• ClinVar RCV Id: RCV002641538
• dbSNP Id: rs751075889
• ExAC: 7:65425939 C / G
• gnomAD v2: 7-65425939-C-G
• gnomAD v3: 7-65960952-C-G
• gnomAD v4: 7-65960952-C-G
• MyVariant Identifiers: chr7:g.65425939C>G (hg19) ; chr7:g.65960952C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960952C>G , CM000669.2:g.65960952C>G	GRCh38
NC_000007.13:g.65425939C>G , CM000669.1:g.65425939C>G	GRCh37
NC_000007.12:g.65063374C>G	NCBI36
NG_016197.1:g.26363G>C
NG_051954.1:g.92854C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1901G>C MANE Select	ENSP00000302728.4:p.Arg634Thr
ENST00000304895.8:c.1901G>C	ENSP00000302728.4:p.Arg634Thr
ENST00000421103.5:c.1463G>C	ENSP00000391390.1:p.Arg488Thr
ENST00000430730.5:c.*1168G>C	ENSP00000411859.1:n.*1168G>C
ENST00000447929.5:c.*1281G>C	ENSP00000411262.1:n.*1281G>C
ENST00000466883.5:n.2291G>C
NM_000181.3:c.1901G>C	NP_000172.2:p.Arg634Thr
NM_001284290.1:c.1463G>C	NP_001271219.1:p.Arg488Thr
NM_001293104.1:c.1331G>C	NP_001280033.1:p.Arg444Thr
NM_001293105.1:c.1244G>C	NP_001280034.1:p.Arg415Thr
NR_120531.1:n.1947G>C
XM_005250297.3:c.1748G>C	XP_005250354.1:p.Arg583Thr
XM_011516113.1:c.1400G>C	XP_011514415.1:p.Arg467Thr
XM_011516114.1:c.1229G>C	XP_011514416.1:p.Arg410Thr
XM_005250297.4:c.1748G>C	XP_005250354.1:p.Arg583Thr
XM_011516114.2:c.1229G>C	XP_011514416.1:p.Arg410Thr
XM_017012091.1:c.1247G>C	XP_016867580.1:p.Arg416Thr
XM_017012092.1:c.1178G>C	XP_016867581.1:p.Arg393Thr
XM_017012093.2:c.1076G>C	XP_016867582.1:p.Arg359Thr
XR_001744658.2:n.1708G>C
XR_001744659.2:n.1821G>C
XR_001744660.2:n.1753G>C
XR_001744661.2:n.1668G>C
XR_927461.3:n.1906G>C
NM_000181.4:c.1901G>C MANE Select	NP_000172.2:p.Arg634Thr
NM_001284290.2:c.1463G>C	NP_001271219.1:p.Arg488Thr
NM_001293104.2:c.1331G>C	NP_001280033.1:p.Arg444Thr
NM_001293105.2:c.1244G>C	NP_001280034.1:p.Arg415Thr
NR_120531.2:n.1846G>C