Canonical Allele Identifier: CA4276253

Gene: GUSB

Linked Data

• dbSNP Id: rs767814273
• ExAC: 7:65432925 A / C
• gnomAD v2: 7-65432925-A-C
• gnomAD v4: 7-65967938-A-C
• MyVariant Identifiers: chr7:g.65432925A>C (hg19) ; chr7:g.65967938A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967938A>C , CM000669.2:g.65967938A>C	GRCh38
NC_000007.13:g.65432925A>C , CM000669.1:g.65432925A>C	GRCh37
NC_000007.12:g.65070360A>C	NCBI36
NG_016197.1:g.19377T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1477-31T>G MANE Select	ENSP00000302728.4:n.1477-31T>G
ENST00000304895.8:c.1477-31T>G	ENSP00000302728.4:n.1477-31T>G
ENST00000421103.5:c.1039-31T>G	ENSP00000391390.1:n.1039-31T>G
ENST00000430730.5:c.*744-31T>G	ENSP00000411859.1:n.*744-31T>G
ENST00000447929.5:c.*857-31T>G	ENSP00000411262.1:n.*857-31T>G
ENST00000462371.1:n.515-31T>G
ENST00000466883.5:n.1867-31T>G
NM_000181.3:c.1477-31T>G	NP_000172.2:n.1477-31T>G
NM_001284290.1:c.1039-31T>G	NP_001271219.1:n.1039-31T>G
NM_001293104.1:c.907-31T>G	NP_001280033.1:n.907-31T>G
NM_001293105.1:c.820-31T>G	NP_001280034.1:n.820-31T>G
NR_120531.1:n.1523-31T>G
XM_005250297.3:c.1324-31T>G	XP_005250354.1:n.1324-31T>G
XM_011516113.1:c.976-31T>G	XP_011514415.1:n.976-31T>G
XM_011516114.1:c.805-31T>G	XP_011514416.1:n.805-31T>G
XR_927461.1:n.1563-31T>G
XM_005250297.4:c.1324-31T>G	XP_005250354.1:n.1324-31T>G
XM_011516114.2:c.805-31T>G	XP_011514416.1:n.805-31T>G
XM_017012091.1:c.823-31T>G	XP_016867580.1:n.823-31T>G
XM_017012092.1:c.754-31T>G	XP_016867581.1:n.754-31T>G
XM_017012093.2:c.652-31T>G	XP_016867582.1:n.652-31T>G
XR_001744658.2:n.1284-31T>G
XR_001744659.2:n.1397-31T>G
XR_001744660.2:n.1329-31T>G
XR_001744661.2:n.1244-31T>G
XR_927461.3:n.1482-31T>G
NM_000181.4:c.1477-31T>G MANE Select	NP_000172.2:n.1477-31T>G
NM_001284290.2:c.1039-31T>G	NP_001271219.1:n.1039-31T>G
NM_001293104.2:c.907-31T>G	NP_001280033.1:n.907-31T>G
NM_001293105.2:c.820-31T>G	NP_001280034.1:n.820-31T>G
NR_120531.2:n.1422-31T>G