Canonical Allele Identifier: CA367654652

Gene: GUSB

Linked Data

• ClinVar Variation Id: 3064887
• ClinVar RCV Id: RCV003989964
• gnomAD v4: 7-65981995-C-G
• MyVariant Identifiers: chr7:g.65446982C>G (hg19) ; chr7:g.65981995C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65981995C>G , CM000669.2:g.65981995C>G	GRCh38
NC_000007.13:g.65446982C>G , CM000669.1:g.65446982C>G	GRCh37
NC_000007.12:g.65084417C>G	NCBI36
NG_016197.1:g.5320G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.189G>C MANE Select	ENSP00000302728.4:p.Trp63Cys
ENST00000304895.8:c.189G>C	ENSP00000302728.4:p.Trp63Cys
ENST00000421103.5:c.189G>C	ENSP00000391390.1:p.Trp63Cys
ENST00000430730.5:c.189G>C	ENSP00000411859.1:p.Trp63Cys
ENST00000446111.1:c.189G>C	ENSP00000416793.1:p.Trp63Cys
ENST00000447929.5:c.189G>C	ENSP00000411262.1:p.Trp63Cys
ENST00000475316.5:n.94G>C
NM_000181.3:c.189G>C	NP_000172.2:p.Trp63Cys
NM_001284290.1:c.189G>C	NP_001271219.1:p.Trp63Cys
NM_001293104.1:c.-197G>C	NP_001280033.1:n.-197G>C
NM_001293105.1:c.-141G>C	NP_001280034.1:n.-141G>C
NR_120531.1:n.320G>C
XM_005250297.3:c.189G>C	XP_005250354.1:p.Trp63Cys
XM_011516113.1:c.-141G>C	XP_011514415.1:n.-141G>C
XR_927461.1:n.315G>C
XM_005250297.4:c.189G>C	XP_005250354.1:p.Trp63Cys
XM_011516114.2:c.-497G>C	XP_011514416.1:n.-497G>C
XM_017012091.1:c.-141G>C	XP_016867580.1:n.-141G>C
XM_017012092.1:c.-197G>C	XP_016867581.1:n.-197G>C
XM_017012093.2:c.-497G>C	XP_016867582.1:n.-497G>C
XR_001744658.2:n.234G>C
XR_001744659.2:n.234G>C
XR_001744660.2:n.234G>C
XR_001744661.2:n.234G>C
XR_927461.3:n.234G>C
NM_000181.4:c.189G>C MANE Select	NP_000172.2:p.Trp63Cys
NM_001284290.2:c.189G>C	NP_001271219.1:p.Trp63Cys
NM_001293104.2:c.-197G>C	NP_001280033.1:n.-197G>C
NM_001293105.2:c.-141G>C	NP_001280034.1:n.-141G>C
NR_120531.2:n.219G>C