Canonical Allele Identifier: CA367636908

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425884T>G (hg19) ; chr7:g.65960897T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960897T>G , CM000669.2:g.65960897T>G	GRCh38
NC_000007.13:g.65425884T>G , CM000669.1:g.65425884T>G	GRCh37
NC_000007.12:g.65063319T>G	NCBI36
NG_016197.1:g.26418A>C
NG_051954.1:g.92799T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1956A>C MANE Select	ENSP00000302728.4:p.Ter652Cys
ENST00000304895.8:c.1956A>C	ENSP00000302728.4:p.Ter652Cys
ENST00000421103.5:c.1518A>C	ENSP00000391390.1:p.Ter506Cys
ENST00000430730.5:c.*1223A>C	ENSP00000411859.1:n.*1223A>C
ENST00000447929.5:c.*1336A>C	ENSP00000411262.1:n.*1336A>C
ENST00000466883.5:n.2346A>C
NM_000181.3:c.1956A>C	NP_000172.2:p.Ter652Cys
NM_001284290.1:c.1518A>C	NP_001271219.1:p.Ter506Cys
NM_001293104.1:c.1386A>C	NP_001280033.1:p.Ter462Cys
NM_001293105.1:c.1299A>C	NP_001280034.1:p.Ter433Cys
NR_120531.1:n.2002A>C
XM_005250297.3:c.1803A>C	XP_005250354.1:p.Ter601Cys
XM_011516113.1:c.1455A>C	XP_011514415.1:p.Ter485Cys
XM_011516114.1:c.1284A>C	XP_011514416.1:p.Ter428Cys
XM_005250297.4:c.1803A>C	XP_005250354.1:p.Ter601Cys
XM_011516114.2:c.1284A>C	XP_011514416.1:p.Ter428Cys
XM_017012091.1:c.1302A>C	XP_016867580.1:p.Ter434Cys
XM_017012092.1:c.1233A>C	XP_016867581.1:p.Ter411Cys
XM_017012093.2:c.1131A>C	XP_016867582.1:p.Ter377Cys
XR_001744658.2:n.1763A>C
XR_001744659.2:n.1876A>C
XR_001744660.2:n.1808A>C
XR_001744661.2:n.1723A>C
XR_927461.3:n.1961A>C
NM_000181.4:c.1956A>C MANE Select	NP_000172.2:p.Ter652Cys
NM_001284290.2:c.1518A>C	NP_001271219.1:p.Ter506Cys
NM_001293104.2:c.1386A>C	NP_001280033.1:p.Ter462Cys
NM_001293105.2:c.1299A>C	NP_001280034.1:p.Ter433Cys
NR_120531.2:n.1901A>C