Canonical Allele Identifier: CA367636930

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425889T>G (hg19) ; chr7:g.65960902T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960902T>G , CM000669.2:g.65960902T>G	GRCh38
NC_000007.13:g.65425889T>G , CM000669.1:g.65425889T>G	GRCh37
NC_000007.12:g.65063324T>G	NCBI36
NG_016197.1:g.26413A>C
NG_051954.1:g.92804T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1951A>C MANE Select	ENSP00000302728.4:p.Thr651Pro
ENST00000304895.8:c.1951A>C	ENSP00000302728.4:p.Thr651Pro
ENST00000421103.5:c.1513A>C	ENSP00000391390.1:p.Thr505Pro
ENST00000430730.5:c.*1218A>C	ENSP00000411859.1:n.*1218A>C
ENST00000447929.5:c.*1331A>C	ENSP00000411262.1:n.*1331A>C
ENST00000466883.5:n.2341A>C
NM_000181.3:c.1951A>C	NP_000172.2:p.Thr651Pro
NM_001284290.1:c.1513A>C	NP_001271219.1:p.Thr505Pro
NM_001293104.1:c.1381A>C	NP_001280033.1:p.Thr461Pro
NM_001293105.1:c.1294A>C	NP_001280034.1:p.Thr432Pro
NR_120531.1:n.1997A>C
XM_005250297.3:c.1798A>C	XP_005250354.1:p.Thr600Pro
XM_011516113.1:c.1450A>C	XP_011514415.1:p.Thr484Pro
XM_011516114.1:c.1279A>C	XP_011514416.1:p.Thr427Pro
XM_005250297.4:c.1798A>C	XP_005250354.1:p.Thr600Pro
XM_011516114.2:c.1279A>C	XP_011514416.1:p.Thr427Pro
XM_017012091.1:c.1297A>C	XP_016867580.1:p.Thr433Pro
XM_017012092.1:c.1228A>C	XP_016867581.1:p.Thr410Pro
XM_017012093.2:c.1126A>C	XP_016867582.1:p.Thr376Pro
XR_001744658.2:n.1758A>C
XR_001744659.2:n.1871A>C
XR_001744660.2:n.1803A>C
XR_001744661.2:n.1718A>C
XR_927461.3:n.1956A>C
NM_000181.4:c.1951A>C MANE Select	NP_000172.2:p.Thr651Pro
NM_001284290.2:c.1513A>C	NP_001271219.1:p.Thr505Pro
NM_001293104.2:c.1381A>C	NP_001280033.1:p.Thr461Pro
NM_001293105.2:c.1294A>C	NP_001280034.1:p.Thr432Pro
NR_120531.2:n.1896A>C