Canonical Allele Identifier: CA367637626

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65426029T>A (hg19) ; chr7:g.65961042T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961042T>A , CM000669.2:g.65961042T>A	GRCh38
NC_000007.13:g.65426029T>A , CM000669.1:g.65426029T>A	GRCh37
NC_000007.12:g.65063464T>A	NCBI36
NG_016197.1:g.26273A>T
NG_051954.1:g.92944T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1811A>T MANE Select	ENSP00000302728.4:p.Asn604Ile
ENST00000304895.8:c.1811A>T	ENSP00000302728.4:p.Asn604Ile
ENST00000421103.5:c.1373A>T	ENSP00000391390.1:p.Asn458Ile
ENST00000430730.5:c.*1078A>T	ENSP00000411859.1:n.*1078A>T
ENST00000447929.5:c.*1191A>T	ENSP00000411262.1:n.*1191A>T
ENST00000466883.5:n.2201A>T
NM_000181.3:c.1811A>T	NP_000172.2:p.Asn604Ile
NM_001284290.1:c.1373A>T	NP_001271219.1:p.Asn458Ile
NM_001293104.1:c.1241A>T	NP_001280033.1:p.Asn414Ile
NM_001293105.1:c.1154A>T	NP_001280034.1:p.Asn385Ile
NR_120531.1:n.1857A>T
XM_005250297.3:c.1658A>T	XP_005250354.1:p.Asn553Ile
XM_011516113.1:c.1310A>T	XP_011514415.1:p.Asn437Ile
XM_011516114.1:c.1139A>T	XP_011514416.1:p.Asn380Ile
XM_005250297.4:c.1658A>T	XP_005250354.1:p.Asn553Ile
XM_011516114.2:c.1139A>T	XP_011514416.1:p.Asn380Ile
XM_017012091.1:c.1157A>T	XP_016867580.1:p.Asn386Ile
XM_017012092.1:c.1088A>T	XP_016867581.1:p.Asn363Ile
XM_017012093.2:c.986A>T	XP_016867582.1:p.Asn329Ile
XR_001744658.2:n.1618A>T
XR_001744659.2:n.1731A>T
XR_001744660.2:n.1663A>T
XR_001744661.2:n.1578A>T
XR_927461.3:n.1816A>T
NM_000181.4:c.1811A>T MANE Select	NP_000172.2:p.Asn604Ile
NM_001284290.2:c.1373A>T	NP_001271219.1:p.Asn458Ile
NM_001293104.2:c.1241A>T	NP_001280033.1:p.Asn414Ile
NM_001293105.2:c.1154A>T	NP_001280034.1:p.Asn385Ile
NR_120531.2:n.1756A>T