Canonical Allele Identifier: CA159904423

Gene: GUSB

Linked Data

• ClinVar Variation Id: 558970
• ClinVar RCV Id: RCV000675828
• dbSNP Id: rs751073317
• gnomAD v2: 7-65425861-C-A
• gnomAD v4: 7-65960874-C-A
• MyVariant Identifiers: chr7:g.65425861C>A (hg19) ; chr7:g.65960874C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960874C>A , CM000669.2:g.65960874C>A	GRCh38
NC_000007.13:g.65425861C>A , CM000669.1:g.65425861C>A	GRCh37
NC_000007.12:g.65063296C>A	NCBI36
NG_016197.1:g.26441G>T
NG_051954.1:g.92776C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.*23G>T MANE Select	ENSP00000302728.4:n.*23G>T
ENST00000304895.8:c.*23G>T	ENSP00000302728.4:n.*23G>T
ENST00000421103.5:c.*23G>T	ENSP00000391390.1:n.*23G>T
ENST00000430730.5:c.*1246G>T	ENSP00000411859.1:n.*1246G>T
ENST00000447929.5:c.*1359G>T	ENSP00000411262.1:n.*1359G>T
ENST00000466883.5:n.2369G>T
NM_000181.3:c.*23G>T	NP_000172.2:n.*23G>T
NM_001284290.1:c.*23G>T	NP_001271219.1:n.*23G>T
NM_001293104.1:c.*23G>T	NP_001280033.1:n.*23G>T
NM_001293105.1:c.*23G>T	NP_001280034.1:n.*23G>T
NR_120531.1:n.2025G>T
XM_005250297.3:c.*23G>T	XP_005250354.1:n.*23G>T
XM_011516113.1:c.*23G>T	XP_011514415.1:n.*23G>T
XM_011516114.1:c.*23G>T	XP_011514416.1:n.*23G>T
XM_005250297.4:c.*23G>T	XP_005250354.1:n.*23G>T
XM_011516114.2:c.*23G>T	XP_011514416.1:n.*23G>T
XM_017012091.1:c.*23G>T	XP_016867580.1:n.*23G>T
XM_017012092.1:c.*23G>T	XP_016867581.1:n.*23G>T
XM_017012093.2:c.*23G>T	XP_016867582.1:n.*23G>T
XR_001744658.2:n.1786G>T
XR_001744659.2:n.1899G>T
XR_001744660.2:n.1831G>T
XR_001744661.2:n.1746G>T
XR_927461.3:n.1984G>T
NM_000181.4:c.*23G>T MANE Select	NP_000172.2:n.*23G>T
NM_001284290.2:c.*23G>T	NP_001271219.1:n.*23G>T
NM_001293104.2:c.*23G>T	NP_001280033.1:n.*23G>T
NM_001293105.2:c.*23G>T	NP_001280034.1:n.*23G>T
NR_120531.2:n.1924G>T