Canonical Allele Identifier: CA367640322

Gene: GUSB

Linked Data

• dbSNP Id: rs1472841930
• gnomAD v2: 7-65432846-G-A
• gnomAD v4: 7-65967859-G-A
• MyVariant Identifiers: chr7:g.65432846G>A (hg19) ; chr7:g.65967859G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967859G>A , CM000669.2:g.65967859G>A	GRCh38
NC_000007.13:g.65432846G>A , CM000669.1:g.65432846G>A	GRCh37
NC_000007.12:g.65070281G>A	NCBI36
NG_016197.1:g.19456C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1525C>T MANE Select	ENSP00000302728.4:p.His509Tyr
ENST00000304895.8:c.1525C>T	ENSP00000302728.4:p.His509Tyr
ENST00000421103.5:c.1087C>T	ENSP00000391390.1:p.His363Tyr
ENST00000430730.5:c.*792C>T	ENSP00000411859.1:n.*792C>T
ENST00000447929.5:c.*905C>T	ENSP00000411262.1:n.*905C>T
ENST00000461622.1:n.50C>T
ENST00000462371.1:n.563C>T
ENST00000466883.5:n.1915C>T
NM_000181.3:c.1525C>T	NP_000172.2:p.His509Tyr
NM_001284290.1:c.1087C>T	NP_001271219.1:p.His363Tyr
NM_001293104.1:c.955C>T	NP_001280033.1:p.His319Tyr
NM_001293105.1:c.868C>T	NP_001280034.1:p.His290Tyr
NR_120531.1:n.1571C>T
XM_005250297.3:c.1372C>T	XP_005250354.1:p.His458Tyr
XM_011516113.1:c.1024C>T	XP_011514415.1:p.His342Tyr
XM_011516114.1:c.853C>T	XP_011514416.1:p.His285Tyr
XR_927461.1:n.1611C>T
XM_005250297.4:c.1372C>T	XP_005250354.1:p.His458Tyr
XM_011516114.2:c.853C>T	XP_011514416.1:p.His285Tyr
XM_017012091.1:c.871C>T	XP_016867580.1:p.His291Tyr
XM_017012092.1:c.802C>T	XP_016867581.1:p.His268Tyr
XM_017012093.2:c.700C>T	XP_016867582.1:p.His234Tyr
XR_001744658.2:n.1332C>T
XR_001744659.2:n.1445C>T
XR_001744660.2:n.1377C>T
XR_001744661.2:n.1292C>T
XR_927461.3:n.1530C>T
NM_000181.4:c.1525C>T MANE Select	NP_000172.2:p.His509Tyr
NM_001284290.2:c.1087C>T	NP_001271219.1:p.His363Tyr
NM_001293104.2:c.955C>T	NP_001280033.1:p.His319Tyr
NM_001293105.2:c.868C>T	NP_001280034.1:p.His290Tyr
NR_120531.2:n.1470C>T