Canonical Allele Identifier: CA575259145

Gene: GUSB

Linked Data

• ClinVar Variation Id: 2958631
• ClinVar RCV Id: RCV003816854
• dbSNP Id: rs1165609185
• gnomAD v2: 7-65426070-A-T
• gnomAD v3: 7-65961083-A-T
• gnomAD v4: 7-65961083-A-T
• MyVariant Identifiers: chr7:g.65426070A>T (hg19) ; chr7:g.65961083A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961083A>T , CM000669.2:g.65961083A>T	GRCh38
NC_000007.13:g.65426070A>T , CM000669.1:g.65426070A>T	GRCh37
NC_000007.12:g.65063505A>T	NCBI36
NG_016197.1:g.26232T>A
NG_051954.1:g.92985A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1790-20T>A MANE Select	ENSP00000302728.4:n.1790-20T>A
ENST00000304895.8:c.1790-20T>A	ENSP00000302728.4:n.1790-20T>A
ENST00000421103.5:c.1352-20T>A	ENSP00000391390.1:n.1352-20T>A
ENST00000430730.5:c.*1057-20T>A	ENSP00000411859.1:n.*1057-20T>A
ENST00000447929.5:c.*1170-20T>A	ENSP00000411262.1:n.*1170-20T>A
ENST00000466883.5:n.2180-20T>A
NM_000181.3:c.1790-20T>A	NP_000172.2:n.1790-20T>A
NM_001284290.1:c.1352-20T>A	NP_001271219.1:n.1352-20T>A
NM_001293104.1:c.1220-20T>A	NP_001280033.1:n.1220-20T>A
NM_001293105.1:c.1133-20T>A	NP_001280034.1:n.1133-20T>A
NR_120531.1:n.1836-20T>A
XM_005250297.3:c.1637-20T>A	XP_005250354.1:n.1637-20T>A
XM_011516113.1:c.1289-20T>A	XP_011514415.1:n.1289-20T>A
XM_011516114.1:c.1118-20T>A	XP_011514416.1:n.1118-20T>A
XM_005250297.4:c.1637-20T>A	XP_005250354.1:n.1637-20T>A
XM_011516114.2:c.1118-20T>A	XP_011514416.1:n.1118-20T>A
XM_017012091.1:c.1136-20T>A	XP_016867580.1:n.1136-20T>A
XM_017012092.1:c.1067-20T>A	XP_016867581.1:n.1067-20T>A
XM_017012093.2:c.965-20T>A	XP_016867582.1:n.965-20T>A
XR_001744658.2:n.1597-20T>A
XR_001744659.2:n.1710-20T>A
XR_001744660.2:n.1642-20T>A
XR_001744661.2:n.1557-20T>A
XR_927461.3:n.1795-20T>A
NM_000181.4:c.1790-20T>A MANE Select	NP_000172.2:n.1790-20T>A
NM_001284290.2:c.1352-20T>A	NP_001271219.1:n.1352-20T>A
NM_001293104.2:c.1220-20T>A	NP_001280033.1:n.1220-20T>A
NM_001293105.2:c.1133-20T>A	NP_001280034.1:n.1133-20T>A
NR_120531.2:n.1735-20T>A