Canonical Allele Identifier: CA367640299

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432842T>G (hg19) ; chr7:g.65967855T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967855T>G , CM000669.2:g.65967855T>G	GRCh38
NC_000007.13:g.65432842T>G , CM000669.1:g.65432842T>G	GRCh37
NC_000007.12:g.65070277T>G	NCBI36
NG_016197.1:g.19460A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1529A>C MANE Select	ENSP00000302728.4:p.Asp510Ala
ENST00000304895.8:c.1529A>C	ENSP00000302728.4:p.Asp510Ala
ENST00000421103.5:c.1091A>C	ENSP00000391390.1:p.Asp364Ala
ENST00000430730.5:c.*796A>C	ENSP00000411859.1:n.*796A>C
ENST00000447929.5:c.*909A>C	ENSP00000411262.1:n.*909A>C
ENST00000461622.1:n.54A>C
ENST00000462371.1:n.567A>C
ENST00000466883.5:n.1919A>C
NM_000181.3:c.1529A>C	NP_000172.2:p.Asp510Ala
NM_001284290.1:c.1091A>C	NP_001271219.1:p.Asp364Ala
NM_001293104.1:c.959A>C	NP_001280033.1:p.Asp320Ala
NM_001293105.1:c.872A>C	NP_001280034.1:p.Asp291Ala
NR_120531.1:n.1575A>C
XM_005250297.3:c.1376A>C	XP_005250354.1:p.Asp459Ala
XM_011516113.1:c.1028A>C	XP_011514415.1:p.Asp343Ala
XM_011516114.1:c.857A>C	XP_011514416.1:p.Asp286Ala
XR_927461.1:n.1615A>C
XM_005250297.4:c.1376A>C	XP_005250354.1:p.Asp459Ala
XM_011516114.2:c.857A>C	XP_011514416.1:p.Asp286Ala
XM_017012091.1:c.875A>C	XP_016867580.1:p.Asp292Ala
XM_017012092.1:c.806A>C	XP_016867581.1:p.Asp269Ala
XM_017012093.2:c.704A>C	XP_016867582.1:p.Asp235Ala
XR_001744658.2:n.1336A>C
XR_001744659.2:n.1449A>C
XR_001744660.2:n.1381A>C
XR_001744661.2:n.1296A>C
XR_927461.3:n.1534A>C
NM_000181.4:c.1529A>C MANE Select	NP_000172.2:p.Asp510Ala
NM_001284290.2:c.1091A>C	NP_001271219.1:p.Asp364Ala
NM_001293104.2:c.959A>C	NP_001280033.1:p.Asp320Ala
NM_001293105.2:c.872A>C	NP_001280034.1:p.Asp291Ala
NR_120531.2:n.1474A>C