Canonical Allele Identifier: CA367637385

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425991T>G (hg19) ; chr7:g.65961004T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961004T>G , CM000669.2:g.65961004T>G	GRCh38
NC_000007.13:g.65425991T>G , CM000669.1:g.65425991T>G	GRCh37
NC_000007.12:g.65063426T>G	NCBI36
NG_016197.1:g.26311A>C
NG_051954.1:g.92906T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1849A>C MANE Select	ENSP00000302728.4:p.Ser617Arg
ENST00000304895.8:c.1849A>C	ENSP00000302728.4:p.Ser617Arg
ENST00000421103.5:c.1411A>C	ENSP00000391390.1:p.Ser471Arg
ENST00000430730.5:c.*1116A>C	ENSP00000411859.1:n.*1116A>C
ENST00000447929.5:c.*1229A>C	ENSP00000411262.1:n.*1229A>C
ENST00000466883.5:n.2239A>C
NM_000181.3:c.1849A>C	NP_000172.2:p.Ser617Arg
NM_001284290.1:c.1411A>C	NP_001271219.1:p.Ser471Arg
NM_001293104.1:c.1279A>C	NP_001280033.1:p.Ser427Arg
NM_001293105.1:c.1192A>C	NP_001280034.1:p.Ser398Arg
NR_120531.1:n.1895A>C
XM_005250297.3:c.1696A>C	XP_005250354.1:p.Ser566Arg
XM_011516113.1:c.1348A>C	XP_011514415.1:p.Ser450Arg
XM_011516114.1:c.1177A>C	XP_011514416.1:p.Ser393Arg
XM_005250297.4:c.1696A>C	XP_005250354.1:p.Ser566Arg
XM_011516114.2:c.1177A>C	XP_011514416.1:p.Ser393Arg
XM_017012091.1:c.1195A>C	XP_016867580.1:p.Ser399Arg
XM_017012092.1:c.1126A>C	XP_016867581.1:p.Ser376Arg
XM_017012093.2:c.1024A>C	XP_016867582.1:p.Ser342Arg
XR_001744658.2:n.1656A>C
XR_001744659.2:n.1769A>C
XR_001744660.2:n.1701A>C
XR_001744661.2:n.1616A>C
XR_927461.3:n.1854A>C
NM_000181.4:c.1849A>C MANE Select	NP_000172.2:p.Ser617Arg
NM_001284290.2:c.1411A>C	NP_001271219.1:p.Ser471Arg
NM_001293104.2:c.1279A>C	NP_001280033.1:p.Ser427Arg
NM_001293105.2:c.1192A>C	NP_001280034.1:p.Ser398Arg
NR_120531.2:n.1794A>C