Canonical Allele Identifier: CA4276131

Gene: GUSB

Linked Data

• dbSNP Id: rs769514976
• ExAC: 7:65425872 T / G
• gnomAD v2: 7-65425872-T-G
• gnomAD v3: 7-65960885-T-G
• gnomAD v4: 7-65960885-T-G
• MyVariant Identifiers: chr7:g.65425872T>G (hg19) ; chr7:g.65960885T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960885T>G , CM000669.2:g.65960885T>G	GRCh38
NC_000007.13:g.65425872T>G , CM000669.1:g.65425872T>G	GRCh37
NC_000007.12:g.65063307T>G	NCBI36
NG_016197.1:g.26430A>C
NG_051954.1:g.92787T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.*12A>C MANE Select	ENSP00000302728.4:n.*12A>C
ENST00000304895.8:c.*12A>C	ENSP00000302728.4:n.*12A>C
ENST00000421103.5:c.*12A>C	ENSP00000391390.1:n.*12A>C
ENST00000430730.5:c.*1235A>C	ENSP00000411859.1:n.*1235A>C
ENST00000447929.5:c.*1348A>C	ENSP00000411262.1:n.*1348A>C
ENST00000466883.5:n.2358A>C
NM_000181.3:c.*12A>C	NP_000172.2:n.*12A>C
NM_001284290.1:c.*12A>C	NP_001271219.1:n.*12A>C
NM_001293104.1:c.*12A>C	NP_001280033.1:n.*12A>C
NM_001293105.1:c.*12A>C	NP_001280034.1:n.*12A>C
NR_120531.1:n.2014A>C
XM_005250297.3:c.*12A>C	XP_005250354.1:n.*12A>C
XM_011516113.1:c.*12A>C	XP_011514415.1:n.*12A>C
XM_011516114.1:c.*12A>C	XP_011514416.1:n.*12A>C
XM_005250297.4:c.*12A>C	XP_005250354.1:n.*12A>C
XM_011516114.2:c.*12A>C	XP_011514416.1:n.*12A>C
XM_017012091.1:c.*12A>C	XP_016867580.1:n.*12A>C
XM_017012092.1:c.*12A>C	XP_016867581.1:n.*12A>C
XM_017012093.2:c.*12A>C	XP_016867582.1:n.*12A>C
XR_001744658.2:n.1775A>C
XR_001744659.2:n.1888A>C
XR_001744660.2:n.1820A>C
XR_001744661.2:n.1735A>C
XR_927461.3:n.1973A>C
NM_000181.4:c.*12A>C MANE Select	NP_000172.2:n.*12A>C
NM_001284290.2:c.*12A>C	NP_001271219.1:n.*12A>C
NM_001293104.2:c.*12A>C	NP_001280033.1:n.*12A>C
NM_001293105.2:c.*12A>C	NP_001280034.1:n.*12A>C
NR_120531.2:n.1913A>C