Canonical Allele Identifier: CA4276137

Gene: GUSB

Linked Data

• ClinVar Variation Id: 660494
• ClinVar RCV Id: RCV000817695
• dbSNP Id: rs776024156
• ExAC: 7:65425898 T / G
• gnomAD v2: 7-65425898-T-G
• gnomAD v3: 7-65960911-T-G
• gnomAD v4: 7-65960911-T-G
• MyVariant Identifiers: chr7:g.65425898T>G (hg19) ; chr7:g.65960911T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960911T>G , CM000669.2:g.65960911T>G	GRCh38
NC_000007.13:g.65425898T>G , CM000669.1:g.65425898T>G	GRCh37
NC_000007.12:g.65063333T>G	NCBI36
NG_016197.1:g.26404A>C
NG_051954.1:g.92813T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1942A>C MANE Select	ENSP00000302728.4:p.Ser648Arg
ENST00000304895.8:c.1942A>C	ENSP00000302728.4:p.Ser648Arg
ENST00000421103.5:c.1504A>C	ENSP00000391390.1:p.Ser502Arg
ENST00000430730.5:c.*1209A>C	ENSP00000411859.1:n.*1209A>C
ENST00000447929.5:c.*1322A>C	ENSP00000411262.1:n.*1322A>C
ENST00000466883.5:n.2332A>C
NM_000181.3:c.1942A>C	NP_000172.2:p.Ser648Arg
NM_001284290.1:c.1504A>C	NP_001271219.1:p.Ser502Arg
NM_001293104.1:c.1372A>C	NP_001280033.1:p.Ser458Arg
NM_001293105.1:c.1285A>C	NP_001280034.1:p.Ser429Arg
NR_120531.1:n.1988A>C
XM_005250297.3:c.1789A>C	XP_005250354.1:p.Ser597Arg
XM_011516113.1:c.1441A>C	XP_011514415.1:p.Ser481Arg
XM_011516114.1:c.1270A>C	XP_011514416.1:p.Ser424Arg
XM_005250297.4:c.1789A>C	XP_005250354.1:p.Ser597Arg
XM_011516114.2:c.1270A>C	XP_011514416.1:p.Ser424Arg
XM_017012091.1:c.1288A>C	XP_016867580.1:p.Ser430Arg
XM_017012092.1:c.1219A>C	XP_016867581.1:p.Ser407Arg
XM_017012093.2:c.1117A>C	XP_016867582.1:p.Ser373Arg
XR_001744658.2:n.1749A>C
XR_001744659.2:n.1862A>C
XR_001744660.2:n.1794A>C
XR_001744661.2:n.1709A>C
XR_927461.3:n.1947A>C
NM_000181.4:c.1942A>C MANE Select	NP_000172.2:p.Ser648Arg
NM_001284290.2:c.1504A>C	NP_001271219.1:p.Ser502Arg
NM_001293104.2:c.1372A>C	NP_001280033.1:p.Ser458Arg
NM_001293105.2:c.1285A>C	NP_001280034.1:p.Ser429Arg
NR_120531.2:n.1887A>C