Canonical Allele Identifier: CA4276174

Gene: GUSB

Linked Data

• ClinVar Variation Id: 2798297
• ClinVar RCV Id: RCV003600833
• dbSNP Id: rs763997663
• ExAC: 7:65426068 A / G
• gnomAD v2: 7-65426068-A-G
• gnomAD v3: 7-65961081-A-G
• gnomAD v4: 7-65961081-A-G
• MyVariant Identifiers: chr7:g.65426068A>G (hg19) ; chr7:g.65961081A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961081A>G , CM000669.2:g.65961081A>G	GRCh38
NC_000007.13:g.65426068A>G , CM000669.1:g.65426068A>G	GRCh37
NC_000007.12:g.65063503A>G	NCBI36
NG_016197.1:g.26234T>C
NG_051954.1:g.92983A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1790-18T>C MANE Select	ENSP00000302728.4:n.1790-18T>C
ENST00000304895.8:c.1790-18T>C	ENSP00000302728.4:n.1790-18T>C
ENST00000421103.5:c.1352-18T>C	ENSP00000391390.1:n.1352-18T>C
ENST00000430730.5:c.*1057-18T>C	ENSP00000411859.1:n.*1057-18T>C
ENST00000447929.5:c.*1170-18T>C	ENSP00000411262.1:n.*1170-18T>C
ENST00000466883.5:n.2180-18T>C
NM_000181.3:c.1790-18T>C	NP_000172.2:n.1790-18T>C
NM_001284290.1:c.1352-18T>C	NP_001271219.1:n.1352-18T>C
NM_001293104.1:c.1220-18T>C	NP_001280033.1:n.1220-18T>C
NM_001293105.1:c.1133-18T>C	NP_001280034.1:n.1133-18T>C
NR_120531.1:n.1836-18T>C
XM_005250297.3:c.1637-18T>C	XP_005250354.1:n.1637-18T>C
XM_011516113.1:c.1289-18T>C	XP_011514415.1:n.1289-18T>C
XM_011516114.1:c.1118-18T>C	XP_011514416.1:n.1118-18T>C
XM_005250297.4:c.1637-18T>C	XP_005250354.1:n.1637-18T>C
XM_011516114.2:c.1118-18T>C	XP_011514416.1:n.1118-18T>C
XM_017012091.1:c.1136-18T>C	XP_016867580.1:n.1136-18T>C
XM_017012092.1:c.1067-18T>C	XP_016867581.1:n.1067-18T>C
XM_017012093.2:c.965-18T>C	XP_016867582.1:n.965-18T>C
XR_001744658.2:n.1597-18T>C
XR_001744659.2:n.1710-18T>C
XR_001744660.2:n.1642-18T>C
XR_001744661.2:n.1557-18T>C
XR_927461.3:n.1795-18T>C
NM_000181.4:c.1790-18T>C MANE Select	NP_000172.2:n.1790-18T>C
NM_001284290.2:c.1352-18T>C	NP_001271219.1:n.1352-18T>C
NM_001293104.2:c.1220-18T>C	NP_001280033.1:n.1220-18T>C
NM_001293105.2:c.1133-18T>C	NP_001280034.1:n.1133-18T>C
NR_120531.2:n.1735-18T>C