Canonical Allele Identifier: CA1713864971

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967902C= , CM000669.2:g.65967902C=	GRCh38
NC_000007.13:g.65432889C= , CM000669.1:g.65432889C=	GRCh37
NC_000007.12:g.65070324C=	NCBI36
NG_016197.1:g.19413G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1482G= MANE Select	ENSP00000302728.4:p.Pro494=
ENST00000304895.8:c.1482G=	ENSP00000302728.4:p.Pro494=
ENST00000421103.5:c.1044G=	ENSP00000391390.1:p.Pro348=
ENST00000430730.5:c.*749G=	ENSP00000411859.1:n.*749G=
ENST00000447929.5:c.*862G=	ENSP00000411262.1:n.*862G=
ENST00000461622.1:n.7G=
ENST00000462371.1:n.520G=
ENST00000466883.5:n.1872G=
NM_000181.3:c.1482G=	NP_000172.2:p.Pro494=
NM_001284290.1:c.1044G=	NP_001271219.1:p.Pro348=
NM_001293104.1:c.912G=	NP_001280033.1:p.Pro304=
NM_001293105.1:c.825G=	NP_001280034.1:p.Pro275=
NR_120531.1:n.1528G=
XM_005250297.3:c.1329G=	XP_005250354.1:p.Pro443=
XM_011516113.1:c.981G=	XP_011514415.1:p.Pro327=
XM_011516114.1:c.810G=	XP_011514416.1:p.Pro270=
XR_927461.1:n.1568G=
XM_005250297.4:c.1329G=	XP_005250354.1:p.Pro443=
XM_011516114.2:c.810G=	XP_011514416.1:p.Pro270=
XM_017012091.1:c.828G=	XP_016867580.1:p.Pro276=
XM_017012092.1:c.759G=	XP_016867581.1:p.Pro253=
XM_017012093.2:c.657G=	XP_016867582.1:p.Pro219=
XR_001744658.2:n.1289G=
XR_001744659.2:n.1402G=
XR_001744660.2:n.1334G=
XR_001744661.2:n.1249G=
XR_927461.3:n.1487G=
NM_000181.4:c.1482G= MANE Select	NP_000172.2:p.Pro494=
NM_001284290.2:c.1044G=	NP_001271219.1:p.Pro348=
NM_001293104.2:c.912G=	NP_001280033.1:p.Pro304=
NM_001293105.2:c.825G=	NP_001280034.1:p.Pro275=
NR_120531.2:n.1427G=