Canonical Allele Identifier: CA455439782

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425977A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960990A>T , CM000669.2:g.65960990A>T	GRCh38
NC_000007.13:g.65425977A>T , CM000669.1:g.65425977A>T	GRCh37
NC_000007.12:g.65063412A>T	NCBI36
NG_016197.1:g.26325T>A
NG_051954.1:g.92892A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1863T>A MANE Select	ENSP00000302728.4:p.Leu621=
ENST00000304895.8:c.1863T>A	ENSP00000302728.4:p.Leu621=
ENST00000421103.5:c.1425T>A	ENSP00000391390.1:p.Leu475=
ENST00000430730.5:c.*1130T>A	ENSP00000411859.1:n.*1130T>A
ENST00000447929.5:c.*1243T>A	ENSP00000411262.1:n.*1243T>A
ENST00000466883.5:n.2253T>A
NM_000181.3:c.1863T>A	NP_000172.2:p.Leu621=
NM_001284290.1:c.1425T>A	NP_001271219.1:p.Leu475=
NM_001293104.1:c.1293T>A	NP_001280033.1:p.Leu431=
NM_001293105.1:c.1206T>A	NP_001280034.1:p.Leu402=
NR_120531.1:n.1909T>A
XM_005250297.3:c.1710T>A	XP_005250354.1:p.Leu570=
XM_011516113.1:c.1362T>A	XP_011514415.1:p.Leu454=
XM_011516114.1:c.1191T>A	XP_011514416.1:p.Leu397=
XM_005250297.4:c.1710T>A	XP_005250354.1:p.Leu570=
XM_011516114.2:c.1191T>A	XP_011514416.1:p.Leu397=
XM_017012091.1:c.1209T>A	XP_016867580.1:p.Leu403=
XM_017012092.1:c.1140T>A	XP_016867581.1:p.Leu380=
XM_017012093.2:c.1038T>A	XP_016867582.1:p.Leu346=
XR_001744658.2:n.1670T>A
XR_001744659.2:n.1783T>A
XR_001744660.2:n.1715T>A
XR_001744661.2:n.1630T>A
XR_927461.3:n.1868T>A
NM_000181.4:c.1863T>A MANE Select	NP_000172.2:p.Leu621=
NM_001284290.2:c.1425T>A	NP_001271219.1:p.Leu475=
NM_001293104.2:c.1293T>A	NP_001280033.1:p.Leu431=
NM_001293105.2:c.1206T>A	NP_001280034.1:p.Leu402=
NR_120531.2:n.1808T>A