Canonical Allele Identifier: CA367637537

Gene: GUSB

Linked Data

• gnomAD v3: 7-65961031-T-A
• gnomAD v4: 7-65961031-T-A
• MyVariant Identifiers: chr7:g.65426018T>A (hg19) ; chr7:g.65961031T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961031T>A , CM000669.2:g.65961031T>A	GRCh38
NC_000007.13:g.65426018T>A , CM000669.1:g.65426018T>A	GRCh37
NC_000007.12:g.65063453T>A	NCBI36
NG_016197.1:g.26284A>T
NG_051954.1:g.92933T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1822A>T MANE Select	ENSP00000302728.4:p.Ile608Phe
ENST00000304895.8:c.1822A>T	ENSP00000302728.4:p.Ile608Phe
ENST00000421103.5:c.1384A>T	ENSP00000391390.1:p.Ile462Phe
ENST00000430730.5:c.*1089A>T	ENSP00000411859.1:n.*1089A>T
ENST00000447929.5:c.*1202A>T	ENSP00000411262.1:n.*1202A>T
ENST00000466883.5:n.2212A>T
NM_000181.3:c.1822A>T	NP_000172.2:p.Ile608Phe
NM_001284290.1:c.1384A>T	NP_001271219.1:p.Ile462Phe
NM_001293104.1:c.1252A>T	NP_001280033.1:p.Ile418Phe
NM_001293105.1:c.1165A>T	NP_001280034.1:p.Ile389Phe
NR_120531.1:n.1868A>T
XM_005250297.3:c.1669A>T	XP_005250354.1:p.Ile557Phe
XM_011516113.1:c.1321A>T	XP_011514415.1:p.Ile441Phe
XM_011516114.1:c.1150A>T	XP_011514416.1:p.Ile384Phe
XM_005250297.4:c.1669A>T	XP_005250354.1:p.Ile557Phe
XM_011516114.2:c.1150A>T	XP_011514416.1:p.Ile384Phe
XM_017012091.1:c.1168A>T	XP_016867580.1:p.Ile390Phe
XM_017012092.1:c.1099A>T	XP_016867581.1:p.Ile367Phe
XM_017012093.2:c.997A>T	XP_016867582.1:p.Ile333Phe
XR_001744658.2:n.1629A>T
XR_001744659.2:n.1742A>T
XR_001744660.2:n.1674A>T
XR_001744661.2:n.1589A>T
XR_927461.3:n.1827A>T
NM_000181.4:c.1822A>T MANE Select	NP_000172.2:p.Ile608Phe
NM_001284290.2:c.1384A>T	NP_001271219.1:p.Ile462Phe
NM_001293104.2:c.1252A>T	NP_001280033.1:p.Ile418Phe
NM_001293105.2:c.1165A>T	NP_001280034.1:p.Ile389Phe
NR_120531.2:n.1767A>T