Canonical Allele Identifier: CA367637582

Gene: GUSB

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1817A>T MANE Select	ENSP00000302728.4:p.Lys606Met
ENST00000304895.8:c.1817A>T	ENSP00000302728.4:p.Lys606Met
ENST00000421103.5:c.1379A>T	ENSP00000391390.1:p.Lys460Met
ENST00000430730.5:c.*1084A>T	ENSP00000411859.1:n.*1084A>T
ENST00000447929.5:c.*1197A>T	ENSP00000411262.1:n.*1197A>T
ENST00000466883.5:n.2207A>T
NM_000181.3:c.1817A>T	NP_000172.2:p.Lys606Met
NM_001284290.1:c.1379A>T	NP_001271219.1:p.Lys460Met
NM_001293104.1:c.1247A>T	NP_001280033.1:p.Lys416Met
NM_001293105.1:c.1160A>T	NP_001280034.1:p.Lys387Met
NR_120531.1:n.1863A>T
XM_005250297.3:c.1664A>T	XP_005250354.1:p.Lys555Met
XM_011516113.1:c.1316A>T	XP_011514415.1:p.Lys439Met
XM_011516114.1:c.1145A>T	XP_011514416.1:p.Lys382Met
XM_005250297.4:c.1664A>T	XP_005250354.1:p.Lys555Met
XM_011516114.2:c.1145A>T	XP_011514416.1:p.Lys382Met
XM_017012091.1:c.1163A>T	XP_016867580.1:p.Lys388Met
XM_017012092.1:c.1094A>T	XP_016867581.1:p.Lys365Met
XM_017012093.2:c.992A>T	XP_016867582.1:p.Lys331Met
XR_001744658.2:n.1624A>T
XR_001744659.2:n.1737A>T
XR_001744660.2:n.1669A>T
XR_001744661.2:n.1584A>T
XR_927461.3:n.1822A>T
NM_000181.4:c.1817A>T MANE Select	NP_000172.2:p.Lys606Met
NM_001284290.2:c.1379A>T	NP_001271219.1:p.Lys460Met
NM_001293104.2:c.1247A>T	NP_001280033.1:p.Lys416Met
NM_001293105.2:c.1160A>T	NP_001280034.1:p.Lys387Met
NR_120531.2:n.1762A>T