Canonical Allele Identifier: CA455439574

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425941G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960954G>T , CM000669.2:g.65960954G>T	GRCh38
NC_000007.13:g.65425941G>T , CM000669.1:g.65425941G>T	GRCh37
NC_000007.12:g.65063376G>T	NCBI36
NG_016197.1:g.26361C>A
NG_051954.1:g.92856G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1899C>A MANE Select	ENSP00000302728.4:p.Thr633=
ENST00000304895.8:c.1899C>A	ENSP00000302728.4:p.Thr633=
ENST00000421103.5:c.1461C>A	ENSP00000391390.1:p.Thr487=
ENST00000430730.5:c.*1166C>A	ENSP00000411859.1:n.*1166C>A
ENST00000447929.5:c.*1279C>A	ENSP00000411262.1:n.*1279C>A
ENST00000466883.5:n.2289C>A
NM_000181.3:c.1899C>A	NP_000172.2:p.Thr633=
NM_001284290.1:c.1461C>A	NP_001271219.1:p.Thr487=
NM_001293104.1:c.1329C>A	NP_001280033.1:p.Thr443=
NM_001293105.1:c.1242C>A	NP_001280034.1:p.Thr414=
NR_120531.1:n.1945C>A
XM_005250297.3:c.1746C>A	XP_005250354.1:p.Thr582=
XM_011516113.1:c.1398C>A	XP_011514415.1:p.Thr466=
XM_011516114.1:c.1227C>A	XP_011514416.1:p.Thr409=
XM_005250297.4:c.1746C>A	XP_005250354.1:p.Thr582=
XM_011516114.2:c.1227C>A	XP_011514416.1:p.Thr409=
XM_017012091.1:c.1245C>A	XP_016867580.1:p.Thr415=
XM_017012092.1:c.1176C>A	XP_016867581.1:p.Thr392=
XM_017012093.2:c.1074C>A	XP_016867582.1:p.Thr358=
XR_001744658.2:n.1706C>A
XR_001744659.2:n.1819C>A
XR_001744660.2:n.1751C>A
XR_001744661.2:n.1666C>A
XR_927461.3:n.1904C>A
NM_000181.4:c.1899C>A MANE Select	NP_000172.2:p.Thr633=
NM_001284290.2:c.1461C>A	NP_001271219.1:p.Thr487=
NM_001293104.2:c.1329C>A	NP_001280033.1:p.Thr443=
NM_001293105.2:c.1242C>A	NP_001280034.1:p.Thr414=
NR_120531.2:n.1844C>A