Canonical Allele Identifier: CA455439858

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425986T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960999T>G , CM000669.2:g.65960999T>G	GRCh38
NC_000007.13:g.65425986T>G , CM000669.1:g.65425986T>G	GRCh37
NC_000007.12:g.65063421T>G	NCBI36
NG_016197.1:g.26316A>C
NG_051954.1:g.92901T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1854A>C MANE Select	ENSP00000302728.4:p.Ala618=
ENST00000304895.8:c.1854A>C	ENSP00000302728.4:p.Ala618=
ENST00000421103.5:c.1416A>C	ENSP00000391390.1:p.Ala472=
ENST00000430730.5:c.*1121A>C	ENSP00000411859.1:n.*1121A>C
ENST00000447929.5:c.*1234A>C	ENSP00000411262.1:n.*1234A>C
ENST00000466883.5:n.2244A>C
NM_000181.3:c.1854A>C	NP_000172.2:p.Ala618=
NM_001284290.1:c.1416A>C	NP_001271219.1:p.Ala472=
NM_001293104.1:c.1284A>C	NP_001280033.1:p.Ala428=
NM_001293105.1:c.1197A>C	NP_001280034.1:p.Ala399=
NR_120531.1:n.1900A>C
XM_005250297.3:c.1701A>C	XP_005250354.1:p.Ala567=
XM_011516113.1:c.1353A>C	XP_011514415.1:p.Ala451=
XM_011516114.1:c.1182A>C	XP_011514416.1:p.Ala394=
XM_005250297.4:c.1701A>C	XP_005250354.1:p.Ala567=
XM_011516114.2:c.1182A>C	XP_011514416.1:p.Ala394=
XM_017012091.1:c.1200A>C	XP_016867580.1:p.Ala400=
XM_017012092.1:c.1131A>C	XP_016867581.1:p.Ala377=
XM_017012093.2:c.1029A>C	XP_016867582.1:p.Ala343=
XR_001744658.2:n.1661A>C
XR_001744659.2:n.1774A>C
XR_001744660.2:n.1706A>C
XR_001744661.2:n.1621A>C
XR_927461.3:n.1859A>C
NM_000181.4:c.1854A>C MANE Select	NP_000172.2:p.Ala618=
NM_001284290.2:c.1416A>C	NP_001271219.1:p.Ala472=
NM_001293104.2:c.1284A>C	NP_001280033.1:p.Ala428=
NM_001293105.2:c.1197A>C	NP_001280034.1:p.Ala399=
NR_120531.2:n.1799A>C