Canonical Allele Identifier: CA367640338

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432848T>A (hg19) ; chr7:g.65967861T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967861T>A , CM000669.2:g.65967861T>A	GRCh38
NC_000007.13:g.65432848T>A , CM000669.1:g.65432848T>A	GRCh37
NC_000007.12:g.65070283T>A	NCBI36
NG_016197.1:g.19454A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1523A>T MANE Select	ENSP00000302728.4:p.Tyr508Phe
ENST00000304895.8:c.1523A>T	ENSP00000302728.4:p.Tyr508Phe
ENST00000421103.5:c.1085A>T	ENSP00000391390.1:p.Tyr362Phe
ENST00000430730.5:c.*790A>T	ENSP00000411859.1:n.*790A>T
ENST00000447929.5:c.*903A>T	ENSP00000411262.1:n.*903A>T
ENST00000461622.1:n.48A>T
ENST00000462371.1:n.561A>T
ENST00000466883.5:n.1913A>T
NM_000181.3:c.1523A>T	NP_000172.2:p.Tyr508Phe
NM_001284290.1:c.1085A>T	NP_001271219.1:p.Tyr362Phe
NM_001293104.1:c.953A>T	NP_001280033.1:p.Tyr318Phe
NM_001293105.1:c.866A>T	NP_001280034.1:p.Tyr289Phe
NR_120531.1:n.1569A>T
XM_005250297.3:c.1370A>T	XP_005250354.1:p.Tyr457Phe
XM_011516113.1:c.1022A>T	XP_011514415.1:p.Tyr341Phe
XM_011516114.1:c.851A>T	XP_011514416.1:p.Tyr284Phe
XR_927461.1:n.1609A>T
XM_005250297.4:c.1370A>T	XP_005250354.1:p.Tyr457Phe
XM_011516114.2:c.851A>T	XP_011514416.1:p.Tyr284Phe
XM_017012091.1:c.869A>T	XP_016867580.1:p.Tyr290Phe
XM_017012092.1:c.800A>T	XP_016867581.1:p.Tyr267Phe
XM_017012093.2:c.698A>T	XP_016867582.1:p.Tyr233Phe
XR_001744658.2:n.1330A>T
XR_001744659.2:n.1443A>T
XR_001744660.2:n.1375A>T
XR_001744661.2:n.1290A>T
XR_927461.3:n.1528A>T
NM_000181.4:c.1523A>T MANE Select	NP_000172.2:p.Tyr508Phe
NM_001284290.2:c.1085A>T	NP_001271219.1:p.Tyr362Phe
NM_001293104.2:c.953A>T	NP_001280033.1:p.Tyr318Phe
NM_001293105.2:c.866A>T	NP_001280034.1:p.Tyr289Phe
NR_120531.2:n.1468A>T