Canonical Allele Identifier: CA455439755

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425971T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960984T>G , CM000669.2:g.65960984T>G	GRCh38
NC_000007.13:g.65425971T>G , CM000669.1:g.65425971T>G	GRCh37
NC_000007.12:g.65063406T>G	NCBI36
NG_016197.1:g.26331A>C
NG_051954.1:g.92886T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1869A>C MANE Select	ENSP00000302728.4:p.Arg623=
ENST00000304895.8:c.1869A>C	ENSP00000302728.4:p.Arg623=
ENST00000421103.5:c.1431A>C	ENSP00000391390.1:p.Arg477=
ENST00000430730.5:c.*1136A>C	ENSP00000411859.1:n.*1136A>C
ENST00000447929.5:c.*1249A>C	ENSP00000411262.1:n.*1249A>C
ENST00000466883.5:n.2259A>C
NM_000181.3:c.1869A>C	NP_000172.2:p.Arg623=
NM_001284290.1:c.1431A>C	NP_001271219.1:p.Arg477=
NM_001293104.1:c.1299A>C	NP_001280033.1:p.Arg433=
NM_001293105.1:c.1212A>C	NP_001280034.1:p.Arg404=
NR_120531.1:n.1915A>C
XM_005250297.3:c.1716A>C	XP_005250354.1:p.Arg572=
XM_011516113.1:c.1368A>C	XP_011514415.1:p.Arg456=
XM_011516114.1:c.1197A>C	XP_011514416.1:p.Arg399=
XM_005250297.4:c.1716A>C	XP_005250354.1:p.Arg572=
XM_011516114.2:c.1197A>C	XP_011514416.1:p.Arg399=
XM_017012091.1:c.1215A>C	XP_016867580.1:p.Arg405=
XM_017012092.1:c.1146A>C	XP_016867581.1:p.Arg382=
XM_017012093.2:c.1044A>C	XP_016867582.1:p.Arg348=
XR_001744658.2:n.1676A>C
XR_001744659.2:n.1789A>C
XR_001744660.2:n.1721A>C
XR_001744661.2:n.1636A>C
XR_927461.3:n.1874A>C
NM_000181.4:c.1869A>C MANE Select	NP_000172.2:p.Arg623=
NM_001284290.2:c.1431A>C	NP_001271219.1:p.Arg477=
NM_001293104.2:c.1299A>C	NP_001280033.1:p.Arg433=
NM_001293105.2:c.1212A>C	NP_001280034.1:p.Arg404=
NR_120531.2:n.1814A>C