Canonical Allele Identifier: CA346856

Gene: GUSB

Linked Data

• ClinVar Variation Id: 193563
• ClinVar RCV Id: RCV000173654 ; RCV003987421
• dbSNP Id: rs794726973
• gnomAD v2: 7-65432837-C-T
• gnomAD v4: 7-65967850-C-T
• COSMIC: COSM1209225
• MyVariant Identifiers: chr7:g.65432837C>T (hg19) ; chr7:g.65967850C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967850C>T , CM000669.2:g.65967850C>T	GRCh38
NC_000007.13:g.65432837C>T , CM000669.1:g.65432837C>T	GRCh37
NC_000007.12:g.65070272C>T	NCBI36
NG_016197.1:g.19465G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1534G>A MANE Select	ENSP00000302728.4:p.Gly512Arg
ENST00000304895.8:c.1534G>A	ENSP00000302728.4:p.Gly512Arg
ENST00000421103.5:c.1096G>A	ENSP00000391390.1:p.Gly366Arg
ENST00000430730.5:c.*801G>A	ENSP00000411859.1:n.*801G>A
ENST00000447929.5:c.*914G>A	ENSP00000411262.1:n.*914G>A
ENST00000461622.1:n.59G>A
ENST00000462371.1:n.572G>A
ENST00000466883.5:n.1924G>A
NM_000181.3:c.1534G>A	NP_000172.2:p.Gly512Arg
NM_001284290.1:c.1096G>A	NP_001271219.1:p.Gly366Arg
NM_001293104.1:c.964G>A	NP_001280033.1:p.Gly322Arg
NM_001293105.1:c.877G>A	NP_001280034.1:p.Gly293Arg
NR_120531.1:n.1580G>A
XM_005250297.3:c.1381G>A	XP_005250354.1:p.Gly461Arg
XM_011516113.1:c.1033G>A	XP_011514415.1:p.Gly345Arg
XM_011516114.1:c.862G>A	XP_011514416.1:p.Gly288Arg
XR_927461.1:n.1620G>A
XM_005250297.4:c.1381G>A	XP_005250354.1:p.Gly461Arg
XM_011516114.2:c.862G>A	XP_011514416.1:p.Gly288Arg
XM_017012091.1:c.880G>A	XP_016867580.1:p.Gly294Arg
XM_017012092.1:c.811G>A	XP_016867581.1:p.Gly271Arg
XM_017012093.2:c.709G>A	XP_016867582.1:p.Gly237Arg
XR_001744658.2:n.1341G>A
XR_001744659.2:n.1454G>A
XR_001744660.2:n.1386G>A
XR_001744661.2:n.1301G>A
XR_927461.3:n.1539G>A
NM_000181.4:c.1534G>A MANE Select	NP_000172.2:p.Gly512Arg
NM_001284290.2:c.1096G>A	NP_001271219.1:p.Gly366Arg
NM_001293104.2:c.964G>A	NP_001280033.1:p.Gly322Arg
NM_001293105.2:c.877G>A	NP_001280034.1:p.Gly293Arg
NR_120531.2:n.1479G>A