Canonical Allele Identifier: CA367637113

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425930T>G (hg19) ; chr7:g.65960943T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960943T>G , CM000669.2:g.65960943T>G	GRCh38
NC_000007.13:g.65425930T>G , CM000669.1:g.65425930T>G	GRCh37
NC_000007.12:g.65063365T>G	NCBI36
NG_016197.1:g.26372A>C
NG_051954.1:g.92845T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1910A>C MANE Select	ENSP00000302728.4:p.His637Pro
ENST00000304895.8:c.1910A>C	ENSP00000302728.4:p.His637Pro
ENST00000421103.5:c.1472A>C	ENSP00000391390.1:p.His491Pro
ENST00000430730.5:c.*1177A>C	ENSP00000411859.1:n.*1177A>C
ENST00000447929.5:c.*1290A>C	ENSP00000411262.1:n.*1290A>C
ENST00000466883.5:n.2300A>C
NM_000181.3:c.1910A>C	NP_000172.2:p.His637Pro
NM_001284290.1:c.1472A>C	NP_001271219.1:p.His491Pro
NM_001293104.1:c.1340A>C	NP_001280033.1:p.His447Pro
NM_001293105.1:c.1253A>C	NP_001280034.1:p.His418Pro
NR_120531.1:n.1956A>C
XM_005250297.3:c.1757A>C	XP_005250354.1:p.His586Pro
XM_011516113.1:c.1409A>C	XP_011514415.1:p.His470Pro
XM_011516114.1:c.1238A>C	XP_011514416.1:p.His413Pro
XM_005250297.4:c.1757A>C	XP_005250354.1:p.His586Pro
XM_011516114.2:c.1238A>C	XP_011514416.1:p.His413Pro
XM_017012091.1:c.1256A>C	XP_016867580.1:p.His419Pro
XM_017012092.1:c.1187A>C	XP_016867581.1:p.His396Pro
XM_017012093.2:c.1085A>C	XP_016867582.1:p.His362Pro
XR_001744658.2:n.1717A>C
XR_001744659.2:n.1830A>C
XR_001744660.2:n.1762A>C
XR_001744661.2:n.1677A>C
XR_927461.3:n.1915A>C
NM_000181.4:c.1910A>C MANE Select	NP_000172.2:p.His637Pro
NM_001284290.2:c.1472A>C	NP_001271219.1:p.His491Pro
NM_001293104.2:c.1340A>C	NP_001280033.1:p.His447Pro
NM_001293105.2:c.1253A>C	NP_001280034.1:p.His418Pro
NR_120531.2:n.1855A>C