Canonical Allele Identifier: CA455440440

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65426043C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961056C>G , CM000669.2:g.65961056C>G	GRCh38
NC_000007.13:g.65426043C>G , CM000669.1:g.65426043C>G	GRCh37
NC_000007.12:g.65063478C>G	NCBI36
NG_016197.1:g.26259G>C
NG_051954.1:g.92958C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1797G>C MANE Select	ENSP00000302728.4:p.Thr599=
ENST00000304895.8:c.1797G>C	ENSP00000302728.4:p.Thr599=
ENST00000421103.5:c.1359G>C	ENSP00000391390.1:p.Thr453=
ENST00000430730.5:c.*1064G>C	ENSP00000411859.1:n.*1064G>C
ENST00000447929.5:c.*1177G>C	ENSP00000411262.1:n.*1177G>C
ENST00000466883.5:n.2187G>C
NM_000181.3:c.1797G>C	NP_000172.2:p.Thr599=
NM_001284290.1:c.1359G>C	NP_001271219.1:p.Thr453=
NM_001293104.1:c.1227G>C	NP_001280033.1:p.Thr409=
NM_001293105.1:c.1140G>C	NP_001280034.1:p.Thr380=
NR_120531.1:n.1843G>C
XM_005250297.3:c.1644G>C	XP_005250354.1:p.Thr548=
XM_011516113.1:c.1296G>C	XP_011514415.1:p.Thr432=
XM_011516114.1:c.1125G>C	XP_011514416.1:p.Thr375=
XM_005250297.4:c.1644G>C	XP_005250354.1:p.Thr548=
XM_011516114.2:c.1125G>C	XP_011514416.1:p.Thr375=
XM_017012091.1:c.1143G>C	XP_016867580.1:p.Thr381=
XM_017012092.1:c.1074G>C	XP_016867581.1:p.Thr358=
XM_017012093.2:c.972G>C	XP_016867582.1:p.Thr324=
XR_001744658.2:n.1604G>C
XR_001744659.2:n.1717G>C
XR_001744660.2:n.1649G>C
XR_001744661.2:n.1564G>C
XR_927461.3:n.1802G>C
NM_000181.4:c.1797G>C MANE Select	NP_000172.2:p.Thr599=
NM_001284290.2:c.1359G>C	NP_001271219.1:p.Thr453=
NM_001293104.2:c.1227G>C	NP_001280033.1:p.Thr409=
NM_001293105.2:c.1140G>C	NP_001280034.1:p.Thr380=
NR_120531.2:n.1742G>C