Canonical Allele Identifier: CA455449248

Gene: GUSB

Linked Data

• gnomAD v4: 7-65982015-G-T
• MyVariant Identifiers: chr7:g.65447002G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65982015G>T , CM000669.2:g.65982015G>T	GRCh38
NC_000007.13:g.65447002G>T , CM000669.1:g.65447002G>T	GRCh37
NC_000007.12:g.65084437G>T	NCBI36
NG_016197.1:g.5300C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.169C>A MANE Select	ENSP00000302728.4:p.Arg57=
ENST00000304895.8:c.169C>A	ENSP00000302728.4:p.Arg57=
ENST00000421103.5:c.169C>A	ENSP00000391390.1:p.Arg57=
ENST00000430730.5:c.169C>A	ENSP00000411859.1:p.Arg57=
ENST00000446111.1:c.169C>A	ENSP00000416793.1:p.Arg57=
ENST00000447929.5:c.169C>A	ENSP00000411262.1:p.Arg57=
ENST00000475316.5:n.74C>A
NM_000181.3:c.169C>A	NP_000172.2:p.Arg57=
NM_001284290.1:c.169C>A	NP_001271219.1:p.Arg57=
NM_001293104.1:c.-217C>A	NP_001280033.1:n.-217C>A
NM_001293105.1:c.-161C>A	NP_001280034.1:n.-161C>A
NR_120531.1:n.300C>A
XM_005250297.3:c.169C>A	XP_005250354.1:p.Arg57=
XM_011516113.1:c.-161C>A	XP_011514415.1:n.-161C>A
XR_927461.1:n.295C>A
XM_005250297.4:c.169C>A	XP_005250354.1:p.Arg57=
XM_011516114.2:c.-517C>A	XP_011514416.1:n.-517C>A
XM_017012091.1:c.-161C>A	XP_016867580.1:n.-161C>A
XM_017012092.1:c.-217C>A	XP_016867581.1:n.-217C>A
XM_017012093.2:c.-517C>A	XP_016867582.1:n.-517C>A
XR_001744658.2:n.214C>A
XR_001744659.2:n.214C>A
XR_001744660.2:n.214C>A
XR_001744661.2:n.214C>A
XR_927461.3:n.214C>A
NM_000181.4:c.169C>A MANE Select	NP_000172.2:p.Arg57=
NM_001284290.2:c.169C>A	NP_001271219.1:p.Arg57=
NM_001293104.2:c.-217C>A	NP_001280033.1:n.-217C>A
NM_001293105.2:c.-161C>A	NP_001280034.1:n.-161C>A
NR_120531.2:n.199C>A