Canonical Allele Identifier: CA455439970

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425995T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961008T>G , CM000669.2:g.65961008T>G	GRCh38
NC_000007.13:g.65425995T>G , CM000669.1:g.65425995T>G	GRCh37
NC_000007.12:g.65063430T>G	NCBI36
NG_016197.1:g.26307A>C
NG_051954.1:g.92910T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1845A>C MANE Select	ENSP00000302728.4:p.Pro615=
ENST00000304895.8:c.1845A>C	ENSP00000302728.4:p.Pro615=
ENST00000421103.5:c.1407A>C	ENSP00000391390.1:p.Pro469=
ENST00000430730.5:c.*1112A>C	ENSP00000411859.1:n.*1112A>C
ENST00000447929.5:c.*1225A>C	ENSP00000411262.1:n.*1225A>C
ENST00000466883.5:n.2235A>C
NM_000181.3:c.1845A>C	NP_000172.2:p.Pro615=
NM_001284290.1:c.1407A>C	NP_001271219.1:p.Pro469=
NM_001293104.1:c.1275A>C	NP_001280033.1:p.Pro425=
NM_001293105.1:c.1188A>C	NP_001280034.1:p.Pro396=
NR_120531.1:n.1891A>C
XM_005250297.3:c.1692A>C	XP_005250354.1:p.Pro564=
XM_011516113.1:c.1344A>C	XP_011514415.1:p.Pro448=
XM_011516114.1:c.1173A>C	XP_011514416.1:p.Pro391=
XM_005250297.4:c.1692A>C	XP_005250354.1:p.Pro564=
XM_011516114.2:c.1173A>C	XP_011514416.1:p.Pro391=
XM_017012091.1:c.1191A>C	XP_016867580.1:p.Pro397=
XM_017012092.1:c.1122A>C	XP_016867581.1:p.Pro374=
XM_017012093.2:c.1020A>C	XP_016867582.1:p.Pro340=
XR_001744658.2:n.1652A>C
XR_001744659.2:n.1765A>C
XR_001744660.2:n.1697A>C
XR_001744661.2:n.1612A>C
XR_927461.3:n.1850A>C
NM_000181.4:c.1845A>C MANE Select	NP_000172.2:p.Pro615=
NM_001284290.2:c.1407A>C	NP_001271219.1:p.Pro469=
NM_001293104.2:c.1275A>C	NP_001280033.1:p.Pro425=
NM_001293105.2:c.1188A>C	NP_001280034.1:p.Pro396=
NR_120531.2:n.1790A>C