Canonical Allele Identifier: CA4276150

Gene: GUSB

Linked Data

• dbSNP Id: rs777613366
• ExAC: 7:65425964 A / G
• MyVariant Identifiers: chr7:g.65425964A>G (hg19) ; chr7:g.65960977A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960977A>G , CM000669.2:g.65960977A>G	GRCh38
NC_000007.13:g.65425964A>G , CM000669.1:g.65425964A>G	GRCh37
NC_000007.12:g.65063399A>G	NCBI36
NG_016197.1:g.26338T>C
NG_051954.1:g.92879A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1876T>C MANE Select	ENSP00000302728.4:p.Tyr626His
ENST00000304895.8:c.1876T>C	ENSP00000302728.4:p.Tyr626His
ENST00000421103.5:c.1438T>C	ENSP00000391390.1:p.Tyr480His
ENST00000430730.5:c.*1143T>C	ENSP00000411859.1:n.*1143T>C
ENST00000447929.5:c.*1256T>C	ENSP00000411262.1:n.*1256T>C
ENST00000466883.5:n.2266T>C
NM_000181.3:c.1876T>C	NP_000172.2:p.Tyr626His
NM_001284290.1:c.1438T>C	NP_001271219.1:p.Tyr480His
NM_001293104.1:c.1306T>C	NP_001280033.1:p.Tyr436His
NM_001293105.1:c.1219T>C	NP_001280034.1:p.Tyr407His
NR_120531.1:n.1922T>C
XM_005250297.3:c.1723T>C	XP_005250354.1:p.Tyr575His
XM_011516113.1:c.1375T>C	XP_011514415.1:p.Tyr459His
XM_011516114.1:c.1204T>C	XP_011514416.1:p.Tyr402His
XM_005250297.4:c.1723T>C	XP_005250354.1:p.Tyr575His
XM_011516114.2:c.1204T>C	XP_011514416.1:p.Tyr402His
XM_017012091.1:c.1222T>C	XP_016867580.1:p.Tyr408His
XM_017012092.1:c.1153T>C	XP_016867581.1:p.Tyr385His
XM_017012093.2:c.1051T>C	XP_016867582.1:p.Tyr351His
XR_001744658.2:n.1683T>C
XR_001744659.2:n.1796T>C
XR_001744660.2:n.1728T>C
XR_001744661.2:n.1643T>C
XR_927461.3:n.1881T>C
NM_000181.4:c.1876T>C MANE Select	NP_000172.2:p.Tyr626His
NM_001284290.2:c.1438T>C	NP_001271219.1:p.Tyr480His
NM_001293104.2:c.1306T>C	NP_001280033.1:p.Tyr436His
NM_001293105.2:c.1219T>C	NP_001280034.1:p.Tyr407His
NR_120531.2:n.1821T>C