Canonical Allele Identifier: CA455439343

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425908A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960921A>G , CM000669.2:g.65960921A>G	GRCh38
NC_000007.13:g.65425908A>G , CM000669.1:g.65425908A>G	GRCh37
NC_000007.12:g.65063343A>G	NCBI36
NG_016197.1:g.26394T>C
NG_051954.1:g.92823A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1932T>C MANE Select	ENSP00000302728.4:p.Cys644=
ENST00000304895.8:c.1932T>C	ENSP00000302728.4:p.Cys644=
ENST00000421103.5:c.1494T>C	ENSP00000391390.1:p.Cys498=
ENST00000430730.5:c.*1199T>C	ENSP00000411859.1:n.*1199T>C
ENST00000447929.5:c.*1312T>C	ENSP00000411262.1:n.*1312T>C
ENST00000466883.5:n.2322T>C
NM_000181.3:c.1932T>C	NP_000172.2:p.Cys644=
NM_001284290.1:c.1494T>C	NP_001271219.1:p.Cys498=
NM_001293104.1:c.1362T>C	NP_001280033.1:p.Cys454=
NM_001293105.1:c.1275T>C	NP_001280034.1:p.Cys425=
NR_120531.1:n.1978T>C
XM_005250297.3:c.1779T>C	XP_005250354.1:p.Cys593=
XM_011516113.1:c.1431T>C	XP_011514415.1:p.Cys477=
XM_011516114.1:c.1260T>C	XP_011514416.1:p.Cys420=
XM_005250297.4:c.1779T>C	XP_005250354.1:p.Cys593=
XM_011516114.2:c.1260T>C	XP_011514416.1:p.Cys420=
XM_017012091.1:c.1278T>C	XP_016867580.1:p.Cys426=
XM_017012092.1:c.1209T>C	XP_016867581.1:p.Cys403=
XM_017012093.2:c.1107T>C	XP_016867582.1:p.Cys369=
XR_001744658.2:n.1739T>C
XR_001744659.2:n.1852T>C
XR_001744660.2:n.1784T>C
XR_001744661.2:n.1699T>C
XR_927461.3:n.1937T>C
NM_000181.4:c.1932T>C MANE Select	NP_000172.2:p.Cys644=
NM_001284290.2:c.1494T>C	NP_001271219.1:p.Cys498=
NM_001293104.2:c.1362T>C	NP_001280033.1:p.Cys454=
NM_001293105.2:c.1275T>C	NP_001280034.1:p.Cys425=
NR_120531.2:n.1877T>C