Canonical Allele Identifier: CA455442455

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432763A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967776A>G , CM000669.2:g.65967776A>G	GRCh38
NC_000007.13:g.65432763A>G , CM000669.1:g.65432763A>G	GRCh37
NC_000007.12:g.65070198A>G	NCBI36
NG_016197.1:g.19539T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1608T>C MANE Select	ENSP00000302728.4:p.Ile536=
ENST00000304895.8:c.1608T>C	ENSP00000302728.4:p.Ile536=
ENST00000421103.5:c.1170T>C	ENSP00000391390.1:p.Ile390=
ENST00000430730.5:c.*875T>C	ENSP00000411859.1:n.*875T>C
ENST00000447929.5:c.*988T>C	ENSP00000411262.1:n.*988T>C
ENST00000461622.1:n.133T>C
ENST00000462371.1:n.646T>C
ENST00000466883.5:n.1998T>C
NM_000181.3:c.1608T>C	NP_000172.2:p.Ile536=
NM_001284290.1:c.1170T>C	NP_001271219.1:p.Ile390=
NM_001293104.1:c.1038T>C	NP_001280033.1:p.Ile346=
NM_001293105.1:c.951T>C	NP_001280034.1:p.Ile317=
NR_120531.1:n.1654T>C
XM_005250297.3:c.1455T>C	XP_005250354.1:p.Ile485=
XM_011516113.1:c.1107T>C	XP_011514415.1:p.Ile369=
XM_011516114.1:c.936T>C	XP_011514416.1:p.Ile312=
XR_927461.1:n.1694T>C
XM_005250297.4:c.1455T>C	XP_005250354.1:p.Ile485=
XM_011516114.2:c.936T>C	XP_011514416.1:p.Ile312=
XM_017012091.1:c.954T>C	XP_016867580.1:p.Ile318=
XM_017012092.1:c.885T>C	XP_016867581.1:p.Ile295=
XM_017012093.2:c.783T>C	XP_016867582.1:p.Ile261=
XR_001744658.2:n.1415T>C
XR_001744659.2:n.1528T>C
XR_001744660.2:n.1460T>C
XR_001744661.2:n.1375T>C
XR_927461.3:n.1613T>C
NM_000181.4:c.1608T>C MANE Select	NP_000172.2:p.Ile536=
NM_001284290.2:c.1170T>C	NP_001271219.1:p.Ile390=
NM_001293104.2:c.1038T>C	NP_001280033.1:p.Ile346=
NM_001293105.2:c.951T>C	NP_001280034.1:p.Ile317=
NR_120531.2:n.1553T>C