Canonical Allele Identifier: CA455439431

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425923T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960936T>G , CM000669.2:g.65960936T>G	GRCh38
NC_000007.13:g.65425923T>G , CM000669.1:g.65425923T>G	GRCh37
NC_000007.12:g.65063358T>G	NCBI36
NG_016197.1:g.26379A>C
NG_051954.1:g.92838T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1917A>C MANE Select	ENSP00000302728.4:p.Val639=
ENST00000304895.8:c.1917A>C	ENSP00000302728.4:p.Val639=
ENST00000421103.5:c.1479A>C	ENSP00000391390.1:p.Val493=
ENST00000430730.5:c.*1184A>C	ENSP00000411859.1:n.*1184A>C
ENST00000447929.5:c.*1297A>C	ENSP00000411262.1:n.*1297A>C
ENST00000466883.5:n.2307A>C
NM_000181.3:c.1917A>C	NP_000172.2:p.Val639=
NM_001284290.1:c.1479A>C	NP_001271219.1:p.Val493=
NM_001293104.1:c.1347A>C	NP_001280033.1:p.Val449=
NM_001293105.1:c.1260A>C	NP_001280034.1:p.Val420=
NR_120531.1:n.1963A>C
XM_005250297.3:c.1764A>C	XP_005250354.1:p.Val588=
XM_011516113.1:c.1416A>C	XP_011514415.1:p.Val472=
XM_011516114.1:c.1245A>C	XP_011514416.1:p.Val415=
XM_005250297.4:c.1764A>C	XP_005250354.1:p.Val588=
XM_011516114.2:c.1245A>C	XP_011514416.1:p.Val415=
XM_017012091.1:c.1263A>C	XP_016867580.1:p.Val421=
XM_017012092.1:c.1194A>C	XP_016867581.1:p.Val398=
XM_017012093.2:c.1092A>C	XP_016867582.1:p.Val364=
XR_001744658.2:n.1724A>C
XR_001744659.2:n.1837A>C
XR_001744660.2:n.1769A>C
XR_001744661.2:n.1684A>C
XR_927461.3:n.1922A>C
NM_000181.4:c.1917A>C MANE Select	NP_000172.2:p.Val639=
NM_001284290.2:c.1479A>C	NP_001271219.1:p.Val493=
NM_001293104.2:c.1347A>C	NP_001280033.1:p.Val449=
NM_001293105.2:c.1260A>C	NP_001280034.1:p.Val420=
NR_120531.2:n.1862A>C