Canonical Allele Identifier: CA455440502

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65426049T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961062T>A , CM000669.2:g.65961062T>A	GRCh38
NC_000007.13:g.65426049T>A , CM000669.1:g.65426049T>A	GRCh37
NC_000007.12:g.65063484T>A	NCBI36
NG_016197.1:g.26253A>T
NG_051954.1:g.92964T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1791A>T MANE Select	ENSP00000302728.4:p.Ser597=
ENST00000304895.8:c.1791A>T	ENSP00000302728.4:p.Ser597=
ENST00000421103.5:c.1353A>T	ENSP00000391390.1:p.Ser451=
ENST00000430730.5:c.*1058A>T	ENSP00000411859.1:n.*1058A>T
ENST00000447929.5:c.*1171A>T	ENSP00000411262.1:n.*1171A>T
ENST00000466883.5:n.2181A>T
NM_000181.3:c.1791A>T	NP_000172.2:p.Ser597=
NM_001284290.1:c.1353A>T	NP_001271219.1:p.Ser451=
NM_001293104.1:c.1221A>T	NP_001280033.1:p.Ser407=
NM_001293105.1:c.1134A>T	NP_001280034.1:p.Ser378=
NR_120531.1:n.1837A>T
XM_005250297.3:c.1638A>T	XP_005250354.1:p.Ser546=
XM_011516113.1:c.1290A>T	XP_011514415.1:p.Ser430=
XM_011516114.1:c.1119A>T	XP_011514416.1:p.Ser373=
XM_005250297.4:c.1638A>T	XP_005250354.1:p.Ser546=
XM_011516114.2:c.1119A>T	XP_011514416.1:p.Ser373=
XM_017012091.1:c.1137A>T	XP_016867580.1:p.Ser379=
XM_017012092.1:c.1068A>T	XP_016867581.1:p.Ser356=
XM_017012093.2:c.966A>T	XP_016867582.1:p.Ser322=
XR_001744658.2:n.1598A>T
XR_001744659.2:n.1711A>T
XR_001744660.2:n.1643A>T
XR_001744661.2:n.1558A>T
XR_927461.3:n.1796A>T
NM_000181.4:c.1791A>T MANE Select	NP_000172.2:p.Ser597=
NM_001284290.2:c.1353A>T	NP_001271219.1:p.Ser451=
NM_001293104.2:c.1221A>T	NP_001280033.1:p.Ser407=
NM_001293105.2:c.1134A>T	NP_001280034.1:p.Ser378=
NR_120531.2:n.1736A>T