Canonical Allele Identifier: CA455439790

Gene: GUSB

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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