Canonical Allele Identifier: CA4276288

Gene: GUSB

Linked Data

• dbSNP Id: rs199806689
• ExAC: 7:65439254 T / C
• gnomAD v2: 7-65439254-T-C
• gnomAD v3: 7-65974267-T-C
• gnomAD v4: 7-65974267-T-C
• MyVariant Identifiers: chr7:g.65439254T>C (hg19) ; chr7:g.65974267T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65974267T>C , CM000669.2:g.65974267T>C	GRCh38
NC_000007.13:g.65439254T>C , CM000669.1:g.65439254T>C	GRCh37
NC_000007.12:g.65076689T>C	NCBI36
NG_016197.1:g.13048A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1391+28A>G MANE Select	ENSP00000302728.4:n.1391+28A>G
ENST00000304895.8:c.1391+28A>G	ENSP00000302728.4:n.1391+28A>G
ENST00000421103.5:c.953+28A>G	ENSP00000391390.1:n.953+28A>G
ENST00000430730.5:c.*658+28A>G	ENSP00000411859.1:n.*658+28A>G
ENST00000447929.5:c.*771+28A>G	ENSP00000411262.1:n.*771+28A>G
ENST00000462371.1:n.429+28A>G
ENST00000466883.5:n.1866+28A>G
NM_000181.3:c.1391+28A>G	NP_000172.2:n.1391+28A>G
NM_001284290.1:c.953+28A>G	NP_001271219.1:n.953+28A>G
NM_001293104.1:c.821+28A>G	NP_001280033.1:n.821+28A>G
NM_001293105.1:c.734+28A>G	NP_001280034.1:n.734+28A>G
NR_120531.1:n.1522+28A>G
XM_005250297.3:c.1238+28A>G	XP_005250354.1:n.1238+28A>G
XM_011516113.1:c.890+28A>G	XP_011514415.1:n.890+28A>G
XM_011516114.1:c.719+28A>G	XP_011514416.1:n.719+28A>G
XR_927461.1:n.1477+28A>G
XM_005250297.4:c.1238+28A>G	XP_005250354.1:n.1238+28A>G
XM_011516114.2:c.719+28A>G	XP_011514416.1:n.719+28A>G
XM_017012091.1:c.737+28A>G	XP_016867580.1:n.737+28A>G
XM_017012092.1:c.668+28A>G	XP_016867581.1:n.668+28A>G
XM_017012093.2:c.566+28A>G	XP_016867582.1:n.566+28A>G
XR_001744658.2:n.1283+28A>G
XR_001744659.2:n.1396+28A>G
XR_001744660.2:n.1243+28A>G
XR_001744661.2:n.1243+28A>G
XR_927461.3:n.1396+28A>G
NM_000181.4:c.1391+28A>G MANE Select	NP_000172.2:n.1391+28A>G
NM_001284290.2:c.953+28A>G	NP_001271219.1:n.953+28A>G
NM_001293104.2:c.821+28A>G	NP_001280033.1:n.821+28A>G
NM_001293105.2:c.734+28A>G	NP_001280034.1:n.734+28A>G
NR_120531.2:n.1421+28A>G