Canonical Allele Identifier: CA455439446

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425926T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960939T>A , CM000669.2:g.65960939T>A	GRCh38
NC_000007.13:g.65425926T>A , CM000669.1:g.65425926T>A	GRCh37
NC_000007.12:g.65063361T>A	NCBI36
NG_016197.1:g.26376A>T
NG_051954.1:g.92841T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1914A>T MANE Select	ENSP00000302728.4:p.Ser638=
ENST00000304895.8:c.1914A>T	ENSP00000302728.4:p.Ser638=
ENST00000421103.5:c.1476A>T	ENSP00000391390.1:p.Ser492=
ENST00000430730.5:c.*1181A>T	ENSP00000411859.1:n.*1181A>T
ENST00000447929.5:c.*1294A>T	ENSP00000411262.1:n.*1294A>T
ENST00000466883.5:n.2304A>T
NM_000181.3:c.1914A>T	NP_000172.2:p.Ser638=
NM_001284290.1:c.1476A>T	NP_001271219.1:p.Ser492=
NM_001293104.1:c.1344A>T	NP_001280033.1:p.Ser448=
NM_001293105.1:c.1257A>T	NP_001280034.1:p.Ser419=
NR_120531.1:n.1960A>T
XM_005250297.3:c.1761A>T	XP_005250354.1:p.Ser587=
XM_011516113.1:c.1413A>T	XP_011514415.1:p.Ser471=
XM_011516114.1:c.1242A>T	XP_011514416.1:p.Ser414=
XM_005250297.4:c.1761A>T	XP_005250354.1:p.Ser587=
XM_011516114.2:c.1242A>T	XP_011514416.1:p.Ser414=
XM_017012091.1:c.1260A>T	XP_016867580.1:p.Ser420=
XM_017012092.1:c.1191A>T	XP_016867581.1:p.Ser397=
XM_017012093.2:c.1089A>T	XP_016867582.1:p.Ser363=
XR_001744658.2:n.1721A>T
XR_001744659.2:n.1834A>T
XR_001744660.2:n.1766A>T
XR_001744661.2:n.1681A>T
XR_927461.3:n.1919A>T
NM_000181.4:c.1914A>T MANE Select	NP_000172.2:p.Ser638=
NM_001284290.2:c.1476A>T	NP_001271219.1:p.Ser492=
NM_001293104.2:c.1344A>T	NP_001280033.1:p.Ser448=
NM_001293105.2:c.1257A>T	NP_001280034.1:p.Ser419=
NR_120531.2:n.1859A>T