Canonical Allele Identifier: CA367643462

Gene: GUSB

Linked Data

• ClinVar Variation Id: 495724
• ClinVar RCV Id: RCV000590006 ; RCV001206155
• dbSNP Id: rs1434169374
• gnomAD v3: 7-65974349-C-T
• gnomAD v4: 7-65974349-C-T
• MyVariant Identifiers: chr7:g.65439336C>T (hg19) ; chr7:g.65974349C>T (hg38)
• PubMed: PMID:9490302 ; PMID:9921904 ; PMID:19224584

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65974349C>T , CM000669.2:g.65974349C>T	GRCh38
NC_000007.13:g.65439336C>T , CM000669.1:g.65439336C>T	GRCh37
NC_000007.12:g.65076771C>T	NCBI36
NG_016197.1:g.12966G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1337G>A MANE Select	ENSP00000302728.4:p.Trp446Ter
ENST00000304895.8:c.1337G>A	ENSP00000302728.4:p.Trp446Ter
ENST00000421103.5:c.899G>A	ENSP00000391390.1:p.Trp300Ter
ENST00000430730.5:c.*604G>A	ENSP00000411859.1:n.*604G>A
ENST00000447929.5:c.*717G>A	ENSP00000411262.1:n.*717G>A
ENST00000462371.1:n.375G>A
ENST00000465785.5:n.570G>A
ENST00000466883.5:n.1812G>A
NM_000181.3:c.1337G>A	NP_000172.2:p.Trp446Ter
NM_001284290.1:c.899G>A	NP_001271219.1:p.Trp300Ter
NM_001293104.1:c.767G>A	NP_001280033.1:p.Trp256Ter
NM_001293105.1:c.680G>A	NP_001280034.1:p.Trp227Ter
NR_120531.1:n.1468G>A
XM_005250297.3:c.1184G>A	XP_005250354.1:p.Trp395Ter
XM_011516113.1:c.836G>A	XP_011514415.1:p.Trp279Ter
XM_011516114.1:c.665G>A	XP_011514416.1:p.Trp222Ter
XR_927461.1:n.1423G>A
XM_005250297.4:c.1184G>A	XP_005250354.1:p.Trp395Ter
XM_011516114.2:c.665G>A	XP_011514416.1:p.Trp222Ter
XM_017012091.1:c.683G>A	XP_016867580.1:p.Trp228Ter
XM_017012092.1:c.614G>A	XP_016867581.1:p.Trp205Ter
XM_017012093.2:c.512G>A	XP_016867582.1:p.Trp171Ter
XR_001744658.2:n.1229G>A
XR_001744659.2:n.1342G>A
XR_001744660.2:n.1189G>A
XR_001744661.2:n.1189G>A
XR_927461.3:n.1342G>A
NM_000181.4:c.1337G>A MANE Select	NP_000172.2:p.Trp446Ter
NM_001284290.2:c.899G>A	NP_001271219.1:p.Trp300Ter
NM_001293104.2:c.767G>A	NP_001280033.1:p.Trp256Ter
NM_001293105.2:c.680G>A	NP_001280034.1:p.Trp227Ter
NR_120531.2:n.1367G>A