Canonical Allele Identifier: CA455439373

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425914T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960927T>A , CM000669.2:g.65960927T>A	GRCh38
NC_000007.13:g.65425914T>A , CM000669.1:g.65425914T>A	GRCh37
NC_000007.12:g.65063349T>A	NCBI36
NG_016197.1:g.26388A>T
NG_051954.1:g.92829T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1926A>T MANE Select	ENSP00000302728.4:p.Ser642=
ENST00000304895.8:c.1926A>T	ENSP00000302728.4:p.Ser642=
ENST00000421103.5:c.1488A>T	ENSP00000391390.1:p.Ser496=
ENST00000430730.5:c.*1193A>T	ENSP00000411859.1:n.*1193A>T
ENST00000447929.5:c.*1306A>T	ENSP00000411262.1:n.*1306A>T
ENST00000466883.5:n.2316A>T
NM_000181.3:c.1926A>T	NP_000172.2:p.Ser642=
NM_001284290.1:c.1488A>T	NP_001271219.1:p.Ser496=
NM_001293104.1:c.1356A>T	NP_001280033.1:p.Ser452=
NM_001293105.1:c.1269A>T	NP_001280034.1:p.Ser423=
NR_120531.1:n.1972A>T
XM_005250297.3:c.1773A>T	XP_005250354.1:p.Ser591=
XM_011516113.1:c.1425A>T	XP_011514415.1:p.Ser475=
XM_011516114.1:c.1254A>T	XP_011514416.1:p.Ser418=
XM_005250297.4:c.1773A>T	XP_005250354.1:p.Ser591=
XM_011516114.2:c.1254A>T	XP_011514416.1:p.Ser418=
XM_017012091.1:c.1272A>T	XP_016867580.1:p.Ser424=
XM_017012092.1:c.1203A>T	XP_016867581.1:p.Ser401=
XM_017012093.2:c.1101A>T	XP_016867582.1:p.Ser367=
XR_001744658.2:n.1733A>T
XR_001744659.2:n.1846A>T
XR_001744660.2:n.1778A>T
XR_001744661.2:n.1693A>T
XR_927461.3:n.1931A>T
NM_000181.4:c.1926A>T MANE Select	NP_000172.2:p.Ser642=
NM_001284290.2:c.1488A>T	NP_001271219.1:p.Ser496=
NM_001293104.2:c.1356A>T	NP_001280033.1:p.Ser452=
NM_001293105.2:c.1269A>T	NP_001280034.1:p.Ser423=
NR_120531.2:n.1871A>T