Canonical Allele Identifier: CA455442924

Gene: GUSB

Linked Data

• ClinVar Variation Id: 1402788
• ClinVar RCV Id: RCV001908720
• dbSNP Id: rs1333588701
• gnomAD v2: 7-65432886-A-G
• gnomAD v3: 7-65967899-A-G
• gnomAD v4: 7-65967899-A-G
• MyVariant Identifiers: chr7:g.65432886A>G (hg19) ; chr7:g.65967899A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967899A>G , CM000669.2:g.65967899A>G	GRCh38
NC_000007.13:g.65432886A>G , CM000669.1:g.65432886A>G	GRCh37
NC_000007.12:g.65070321A>G	NCBI36
NG_016197.1:g.19416T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1485T>C MANE Select	ENSP00000302728.4:p.Tyr495=
ENST00000304895.8:c.1485T>C	ENSP00000302728.4:p.Tyr495=
ENST00000421103.5:c.1047T>C	ENSP00000391390.1:p.Tyr349=
ENST00000430730.5:c.*752T>C	ENSP00000411859.1:n.*752T>C
ENST00000447929.5:c.*865T>C	ENSP00000411262.1:n.*865T>C
ENST00000461622.1:n.10T>C
ENST00000462371.1:n.523T>C
ENST00000466883.5:n.1875T>C
NM_000181.3:c.1485T>C	NP_000172.2:p.Tyr495=
NM_001284290.1:c.1047T>C	NP_001271219.1:p.Tyr349=
NM_001293104.1:c.915T>C	NP_001280033.1:p.Tyr305=
NM_001293105.1:c.828T>C	NP_001280034.1:p.Tyr276=
NR_120531.1:n.1531T>C
XM_005250297.3:c.1332T>C	XP_005250354.1:p.Tyr444=
XM_011516113.1:c.984T>C	XP_011514415.1:p.Tyr328=
XM_011516114.1:c.813T>C	XP_011514416.1:p.Tyr271=
XR_927461.1:n.1571T>C
XM_005250297.4:c.1332T>C	XP_005250354.1:p.Tyr444=
XM_011516114.2:c.813T>C	XP_011514416.1:p.Tyr271=
XM_017012091.1:c.831T>C	XP_016867580.1:p.Tyr277=
XM_017012092.1:c.762T>C	XP_016867581.1:p.Tyr254=
XM_017012093.2:c.660T>C	XP_016867582.1:p.Tyr220=
XR_001744658.2:n.1292T>C
XR_001744659.2:n.1405T>C
XR_001744660.2:n.1337T>C
XR_001744661.2:n.1252T>C
XR_927461.3:n.1490T>C
NM_000181.4:c.1485T>C MANE Select	NP_000172.2:p.Tyr495=
NM_001284290.2:c.1047T>C	NP_001271219.1:p.Tyr349=
NM_001293104.2:c.915T>C	NP_001280033.1:p.Tyr305=
NM_001293105.2:c.828T>C	NP_001280034.1:p.Tyr276=
NR_120531.2:n.1430T>C