Canonical Allele Identifier: CA367637584

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65426023T>C (hg19) ; chr7:g.65961036T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961036T>C , CM000669.2:g.65961036T>C	GRCh38
NC_000007.13:g.65426023T>C , CM000669.1:g.65426023T>C	GRCh37
NC_000007.12:g.65063458T>C	NCBI36
NG_016197.1:g.26279A>G
NG_051954.1:g.92938T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1817A>G MANE Select	ENSP00000302728.4:p.Lys606Arg
ENST00000304895.8:c.1817A>G	ENSP00000302728.4:p.Lys606Arg
ENST00000421103.5:c.1379A>G	ENSP00000391390.1:p.Lys460Arg
ENST00000430730.5:c.*1084A>G	ENSP00000411859.1:n.*1084A>G
ENST00000447929.5:c.*1197A>G	ENSP00000411262.1:n.*1197A>G
ENST00000466883.5:n.2207A>G
NM_000181.3:c.1817A>G	NP_000172.2:p.Lys606Arg
NM_001284290.1:c.1379A>G	NP_001271219.1:p.Lys460Arg
NM_001293104.1:c.1247A>G	NP_001280033.1:p.Lys416Arg
NM_001293105.1:c.1160A>G	NP_001280034.1:p.Lys387Arg
NR_120531.1:n.1863A>G
XM_005250297.3:c.1664A>G	XP_005250354.1:p.Lys555Arg
XM_011516113.1:c.1316A>G	XP_011514415.1:p.Lys439Arg
XM_011516114.1:c.1145A>G	XP_011514416.1:p.Lys382Arg
XM_005250297.4:c.1664A>G	XP_005250354.1:p.Lys555Arg
XM_011516114.2:c.1145A>G	XP_011514416.1:p.Lys382Arg
XM_017012091.1:c.1163A>G	XP_016867580.1:p.Lys388Arg
XM_017012092.1:c.1094A>G	XP_016867581.1:p.Lys365Arg
XM_017012093.2:c.992A>G	XP_016867582.1:p.Lys331Arg
XR_001744658.2:n.1624A>G
XR_001744659.2:n.1737A>G
XR_001744660.2:n.1669A>G
XR_001744661.2:n.1584A>G
XR_927461.3:n.1822A>G
NM_000181.4:c.1817A>G MANE Select	NP_000172.2:p.Lys606Arg
NM_001284290.2:c.1379A>G	NP_001271219.1:p.Lys460Arg
NM_001293104.2:c.1247A>G	NP_001280033.1:p.Lys416Arg
NM_001293105.2:c.1160A>G	NP_001280034.1:p.Lys387Arg
NR_120531.2:n.1762A>G