Canonical Allele Identifier: CA367637151

Gene: GUSB

Linked Data

• dbSNP Id: rs766019399
• MyVariant Identifiers: chr7:g.65425938C>G (hg19) ; chr7:g.65960951C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960951C>G , CM000669.2:g.65960951C>G	GRCh38
NC_000007.13:g.65425938C>G , CM000669.1:g.65425938C>G	GRCh37
NC_000007.12:g.65063373C>G	NCBI36
NG_016197.1:g.26364G>C
NG_051954.1:g.92853C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1902G>C MANE Select	ENSP00000302728.4:p.Arg634Ser
ENST00000304895.8:c.1902G>C	ENSP00000302728.4:p.Arg634Ser
ENST00000421103.5:c.1464G>C	ENSP00000391390.1:p.Arg488Ser
ENST00000430730.5:c.*1169G>C	ENSP00000411859.1:n.*1169G>C
ENST00000447929.5:c.*1282G>C	ENSP00000411262.1:n.*1282G>C
ENST00000466883.5:n.2292G>C
NM_000181.3:c.1902G>C	NP_000172.2:p.Arg634Ser
NM_001284290.1:c.1464G>C	NP_001271219.1:p.Arg488Ser
NM_001293104.1:c.1332G>C	NP_001280033.1:p.Arg444Ser
NM_001293105.1:c.1245G>C	NP_001280034.1:p.Arg415Ser
NR_120531.1:n.1948G>C
XM_005250297.3:c.1749G>C	XP_005250354.1:p.Arg583Ser
XM_011516113.1:c.1401G>C	XP_011514415.1:p.Arg467Ser
XM_011516114.1:c.1230G>C	XP_011514416.1:p.Arg410Ser
XM_005250297.4:c.1749G>C	XP_005250354.1:p.Arg583Ser
XM_011516114.2:c.1230G>C	XP_011514416.1:p.Arg410Ser
XM_017012091.1:c.1248G>C	XP_016867580.1:p.Arg416Ser
XM_017012092.1:c.1179G>C	XP_016867581.1:p.Arg393Ser
XM_017012093.2:c.1077G>C	XP_016867582.1:p.Arg359Ser
XR_001744658.2:n.1709G>C
XR_001744659.2:n.1822G>C
XR_001744660.2:n.1754G>C
XR_001744661.2:n.1669G>C
XR_927461.3:n.1907G>C
NM_000181.4:c.1902G>C MANE Select	NP_000172.2:p.Arg634Ser
NM_001284290.2:c.1464G>C	NP_001271219.1:p.Arg488Ser
NM_001293104.2:c.1332G>C	NP_001280033.1:p.Arg444Ser
NM_001293105.2:c.1245G>C	NP_001280034.1:p.Arg415Ser
NR_120531.2:n.1847G>C