Canonical Allele Identifier: CA159905771

Gene: GUSB

Linked Data

• ClinVar Variation Id: 2777602
• ClinVar RCV Id: RCV003600499
• dbSNP Id: rs777838133
• gnomAD v4: 7-65967925-G-A
• MyVariant Identifiers: chr7:g.65432912G>A (hg19) ; chr7:g.65967925G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967925G>A , CM000669.2:g.65967925G>A	GRCh38
NC_000007.13:g.65432912G>A , CM000669.1:g.65432912G>A	GRCh37
NC_000007.12:g.65070347G>A	NCBI36
NG_016197.1:g.19390C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1477-18C>T MANE Select	ENSP00000302728.4:n.1477-18C>T
ENST00000304895.8:c.1477-18C>T	ENSP00000302728.4:n.1477-18C>T
ENST00000421103.5:c.1039-18C>T	ENSP00000391390.1:n.1039-18C>T
ENST00000430730.5:c.*744-18C>T	ENSP00000411859.1:n.*744-18C>T
ENST00000447929.5:c.*857-18C>T	ENSP00000411262.1:n.*857-18C>T
ENST00000462371.1:n.515-18C>T
ENST00000466883.5:n.1867-18C>T
NM_000181.3:c.1477-18C>T	NP_000172.2:n.1477-18C>T
NM_001284290.1:c.1039-18C>T	NP_001271219.1:n.1039-18C>T
NM_001293104.1:c.907-18C>T	NP_001280033.1:n.907-18C>T
NM_001293105.1:c.820-18C>T	NP_001280034.1:n.820-18C>T
NR_120531.1:n.1523-18C>T
XM_005250297.3:c.1324-18C>T	XP_005250354.1:n.1324-18C>T
XM_011516113.1:c.976-18C>T	XP_011514415.1:n.976-18C>T
XM_011516114.1:c.805-18C>T	XP_011514416.1:n.805-18C>T
XR_927461.1:n.1563-18C>T
XM_005250297.4:c.1324-18C>T	XP_005250354.1:n.1324-18C>T
XM_011516114.2:c.805-18C>T	XP_011514416.1:n.805-18C>T
XM_017012091.1:c.823-18C>T	XP_016867580.1:n.823-18C>T
XM_017012092.1:c.754-18C>T	XP_016867581.1:n.754-18C>T
XM_017012093.2:c.652-18C>T	XP_016867582.1:n.652-18C>T
XR_001744658.2:n.1284-18C>T
XR_001744659.2:n.1397-18C>T
XR_001744660.2:n.1329-18C>T
XR_001744661.2:n.1244-18C>T
XR_927461.3:n.1482-18C>T
NM_000181.4:c.1477-18C>T MANE Select	NP_000172.2:n.1477-18C>T
NM_001284290.2:c.1039-18C>T	NP_001271219.1:n.1039-18C>T
NM_001293104.2:c.907-18C>T	NP_001280033.1:n.907-18C>T
NM_001293105.2:c.820-18C>T	NP_001280034.1:n.820-18C>T
NR_120531.2:n.1422-18C>T