Canonical Allele Identifier: CA367637373

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425989A>T (hg19) ; chr7:g.65961002A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961002A>T , CM000669.2:g.65961002A>T	GRCh38
NC_000007.13:g.65425989A>T , CM000669.1:g.65425989A>T	GRCh37
NC_000007.12:g.65063424A>T	NCBI36
NG_016197.1:g.26313T>A
NG_051954.1:g.92904A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1851T>A MANE Select	ENSP00000302728.4:p.Ser617Arg
ENST00000304895.8:c.1851T>A	ENSP00000302728.4:p.Ser617Arg
ENST00000421103.5:c.1413T>A	ENSP00000391390.1:p.Ser471Arg
ENST00000430730.5:c.*1118T>A	ENSP00000411859.1:n.*1118T>A
ENST00000447929.5:c.*1231T>A	ENSP00000411262.1:n.*1231T>A
ENST00000466883.5:n.2241T>A
NM_000181.3:c.1851T>A	NP_000172.2:p.Ser617Arg
NM_001284290.1:c.1413T>A	NP_001271219.1:p.Ser471Arg
NM_001293104.1:c.1281T>A	NP_001280033.1:p.Ser427Arg
NM_001293105.1:c.1194T>A	NP_001280034.1:p.Ser398Arg
NR_120531.1:n.1897T>A
XM_005250297.3:c.1698T>A	XP_005250354.1:p.Ser566Arg
XM_011516113.1:c.1350T>A	XP_011514415.1:p.Ser450Arg
XM_011516114.1:c.1179T>A	XP_011514416.1:p.Ser393Arg
XM_005250297.4:c.1698T>A	XP_005250354.1:p.Ser566Arg
XM_011516114.2:c.1179T>A	XP_011514416.1:p.Ser393Arg
XM_017012091.1:c.1197T>A	XP_016867580.1:p.Ser399Arg
XM_017012092.1:c.1128T>A	XP_016867581.1:p.Ser376Arg
XM_017012093.2:c.1026T>A	XP_016867582.1:p.Ser342Arg
XR_001744658.2:n.1658T>A
XR_001744659.2:n.1771T>A
XR_001744660.2:n.1703T>A
XR_001744661.2:n.1618T>A
XR_927461.3:n.1856T>A
NM_000181.4:c.1851T>A MANE Select	NP_000172.2:p.Ser617Arg
NM_001284290.2:c.1413T>A	NP_001271219.1:p.Ser471Arg
NM_001293104.2:c.1281T>A	NP_001280033.1:p.Ser427Arg
NM_001293105.2:c.1194T>A	NP_001280034.1:p.Ser398Arg
NR_120531.2:n.1796T>A