Canonical Allele Identifier: CA455449185

Gene: GUSB

Linked Data

• gnomAD v4: 7-65981988-G-T
• MyVariant Identifiers: chr7:g.65446975G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65981988G>T , CM000669.2:g.65981988G>T	GRCh38
NC_000007.13:g.65446975G>T , CM000669.1:g.65446975G>T	GRCh37
NC_000007.12:g.65084410G>T	NCBI36
NG_016197.1:g.5327C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.196C>A MANE Select	ENSP00000302728.4:p.Arg66=
ENST00000304895.8:c.196C>A	ENSP00000302728.4:p.Arg66=
ENST00000421103.5:c.196C>A	ENSP00000391390.1:p.Arg66=
ENST00000430730.5:c.196C>A	ENSP00000411859.1:p.Arg66=
ENST00000446111.1:c.196C>A	ENSP00000416793.1:p.Arg66=
ENST00000447929.5:c.196C>A	ENSP00000411262.1:p.Arg66=
ENST00000475316.5:n.101C>A
NM_000181.3:c.196C>A	NP_000172.2:p.Arg66=
NM_001284290.1:c.196C>A	NP_001271219.1:p.Arg66=
NM_001293104.1:c.-190C>A	NP_001280033.1:n.-190C>A
NM_001293105.1:c.-134C>A	NP_001280034.1:n.-134C>A
NR_120531.1:n.327C>A
XM_005250297.3:c.196C>A	XP_005250354.1:p.Arg66=
XM_011516113.1:c.-134C>A	XP_011514415.1:n.-134C>A
XR_927461.1:n.322C>A
XM_005250297.4:c.196C>A	XP_005250354.1:p.Arg66=
XM_011516114.2:c.-490C>A	XP_011514416.1:n.-490C>A
XM_017012091.1:c.-134C>A	XP_016867580.1:n.-134C>A
XM_017012092.1:c.-190C>A	XP_016867581.1:n.-190C>A
XM_017012093.2:c.-490C>A	XP_016867582.1:n.-490C>A
XR_001744658.2:n.241C>A
XR_001744659.2:n.241C>A
XR_001744660.2:n.241C>A
XR_001744661.2:n.241C>A
XR_927461.3:n.241C>A
NM_000181.4:c.196C>A MANE Select	NP_000172.2:p.Arg66=
NM_001284290.2:c.196C>A	NP_001271219.1:p.Arg66=
NM_001293104.2:c.-190C>A	NP_001280033.1:n.-190C>A
NM_001293105.2:c.-134C>A	NP_001280034.1:n.-134C>A
NR_120531.2:n.226C>A