Canonical Allele Identifier: CA455439897

Gene: GUSB

Linked Data

• dbSNP Id: rs1790452412
• MyVariant Identifiers: chr7:g.65425989A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961002A>G , CM000669.2:g.65961002A>G	GRCh38
NC_000007.13:g.65425989A>G , CM000669.1:g.65425989A>G	GRCh37
NC_000007.12:g.65063424A>G	NCBI36
NG_016197.1:g.26313T>C
NG_051954.1:g.92904A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1851T>C MANE Select	ENSP00000302728.4:p.Ser617=
ENST00000304895.8:c.1851T>C	ENSP00000302728.4:p.Ser617=
ENST00000421103.5:c.1413T>C	ENSP00000391390.1:p.Ser471=
ENST00000430730.5:c.*1118T>C	ENSP00000411859.1:n.*1118T>C
ENST00000447929.5:c.*1231T>C	ENSP00000411262.1:n.*1231T>C
ENST00000466883.5:n.2241T>C
NM_000181.3:c.1851T>C	NP_000172.2:p.Ser617=
NM_001284290.1:c.1413T>C	NP_001271219.1:p.Ser471=
NM_001293104.1:c.1281T>C	NP_001280033.1:p.Ser427=
NM_001293105.1:c.1194T>C	NP_001280034.1:p.Ser398=
NR_120531.1:n.1897T>C
XM_005250297.3:c.1698T>C	XP_005250354.1:p.Ser566=
XM_011516113.1:c.1350T>C	XP_011514415.1:p.Ser450=
XM_011516114.1:c.1179T>C	XP_011514416.1:p.Ser393=
XM_005250297.4:c.1698T>C	XP_005250354.1:p.Ser566=
XM_011516114.2:c.1179T>C	XP_011514416.1:p.Ser393=
XM_017012091.1:c.1197T>C	XP_016867580.1:p.Ser399=
XM_017012092.1:c.1128T>C	XP_016867581.1:p.Ser376=
XM_017012093.2:c.1026T>C	XP_016867582.1:p.Ser342=
XR_001744658.2:n.1658T>C
XR_001744659.2:n.1771T>C
XR_001744660.2:n.1703T>C
XR_001744661.2:n.1618T>C
XR_927461.3:n.1856T>C
NM_000181.4:c.1851T>C MANE Select	NP_000172.2:p.Ser617=
NM_001284290.2:c.1413T>C	NP_001271219.1:p.Ser471=
NM_001293104.2:c.1281T>C	NP_001280033.1:p.Ser427=
NM_001293105.2:c.1194T>C	NP_001280034.1:p.Ser398=
NR_120531.2:n.1796T>C