Canonical Allele Identifier: CA367637251

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425961A>G (hg19) ; chr7:g.65960974A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960974A>G , CM000669.2:g.65960974A>G	GRCh38
NC_000007.13:g.65425961A>G , CM000669.1:g.65425961A>G	GRCh37
NC_000007.12:g.65063396A>G	NCBI36
NG_016197.1:g.26341T>C
NG_051954.1:g.92876A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1879T>C MANE Select	ENSP00000302728.4:p.Trp627Arg
ENST00000304895.8:c.1879T>C	ENSP00000302728.4:p.Trp627Arg
ENST00000421103.5:c.1441T>C	ENSP00000391390.1:p.Trp481Arg
ENST00000430730.5:c.*1146T>C	ENSP00000411859.1:n.*1146T>C
ENST00000447929.5:c.*1259T>C	ENSP00000411262.1:n.*1259T>C
ENST00000466883.5:n.2269T>C
NM_000181.3:c.1879T>C	NP_000172.2:p.Trp627Arg
NM_001284290.1:c.1441T>C	NP_001271219.1:p.Trp481Arg
NM_001293104.1:c.1309T>C	NP_001280033.1:p.Trp437Arg
NM_001293105.1:c.1222T>C	NP_001280034.1:p.Trp408Arg
NR_120531.1:n.1925T>C
XM_005250297.3:c.1726T>C	XP_005250354.1:p.Trp576Arg
XM_011516113.1:c.1378T>C	XP_011514415.1:p.Trp460Arg
XM_011516114.1:c.1207T>C	XP_011514416.1:p.Trp403Arg
XM_005250297.4:c.1726T>C	XP_005250354.1:p.Trp576Arg
XM_011516114.2:c.1207T>C	XP_011514416.1:p.Trp403Arg
XM_017012091.1:c.1225T>C	XP_016867580.1:p.Trp409Arg
XM_017012092.1:c.1156T>C	XP_016867581.1:p.Trp386Arg
XM_017012093.2:c.1054T>C	XP_016867582.1:p.Trp352Arg
XR_001744658.2:n.1686T>C
XR_001744659.2:n.1799T>C
XR_001744660.2:n.1731T>C
XR_001744661.2:n.1646T>C
XR_927461.3:n.1884T>C
NM_000181.4:c.1879T>C MANE Select	NP_000172.2:p.Trp627Arg
NM_001284290.2:c.1441T>C	NP_001271219.1:p.Trp481Arg
NM_001293104.2:c.1309T>C	NP_001280033.1:p.Trp437Arg
NM_001293105.2:c.1222T>C	NP_001280034.1:p.Trp408Arg
NR_120531.2:n.1824T>C