Canonical Allele Identifier: CA367639828

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432747C>G (hg19) ; chr7:g.65967760C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967760C>G , CM000669.2:g.65967760C>G	GRCh38
NC_000007.13:g.65432747C>G , CM000669.1:g.65432747C>G	GRCh37
NC_000007.12:g.65070182C>G	NCBI36
NG_016197.1:g.19555G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1624G>C MANE Select	ENSP00000302728.4:p.Gly542Arg
ENST00000304895.8:c.1624G>C	ENSP00000302728.4:p.Gly542Arg
ENST00000421103.5:c.1186G>C	ENSP00000391390.1:p.Gly396Arg
ENST00000430730.5:c.*891G>C	ENSP00000411859.1:n.*891G>C
ENST00000447929.5:c.*1004G>C	ENSP00000411262.1:n.*1004G>C
ENST00000461622.1:n.149G>C
ENST00000462371.1:n.662G>C
ENST00000466883.5:n.2014G>C
NM_000181.3:c.1624G>C	NP_000172.2:p.Gly542Arg
NM_001284290.1:c.1186G>C	NP_001271219.1:p.Gly396Arg
NM_001293104.1:c.1054G>C	NP_001280033.1:p.Gly352Arg
NM_001293105.1:c.967G>C	NP_001280034.1:p.Gly323Arg
NR_120531.1:n.1670G>C
XM_005250297.3:c.1471G>C	XP_005250354.1:p.Gly491Arg
XM_011516113.1:c.1123G>C	XP_011514415.1:p.Gly375Arg
XM_011516114.1:c.952G>C	XP_011514416.1:p.Gly318Arg
XR_927461.1:n.1710G>C
XM_005250297.4:c.1471G>C	XP_005250354.1:p.Gly491Arg
XM_011516114.2:c.952G>C	XP_011514416.1:p.Gly318Arg
XM_017012091.1:c.970G>C	XP_016867580.1:p.Gly324Arg
XM_017012092.1:c.901G>C	XP_016867581.1:p.Gly301Arg
XM_017012093.2:c.799G>C	XP_016867582.1:p.Gly267Arg
XR_001744658.2:n.1431G>C
XR_001744659.2:n.1544G>C
XR_001744660.2:n.1476G>C
XR_001744661.2:n.1391G>C
XR_927461.3:n.1629G>C
NM_000181.4:c.1624G>C MANE Select	NP_000172.2:p.Gly542Arg
NM_001284290.2:c.1186G>C	NP_001271219.1:p.Gly396Arg
NM_001293104.2:c.1054G>C	NP_001280033.1:p.Gly352Arg
NM_001293105.2:c.967G>C	NP_001280034.1:p.Gly323Arg
NR_120531.2:n.1569G>C