Canonical Allele Identifier: CA455440390

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65426037C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961050C>T , CM000669.2:g.65961050C>T	GRCh38
NC_000007.13:g.65426037C>T , CM000669.1:g.65426037C>T	GRCh37
NC_000007.12:g.65063472C>T	NCBI36
NG_016197.1:g.26265G>A
NG_051954.1:g.92952C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1803G>A MANE Select	ENSP00000302728.4:p.Val601=
ENST00000304895.8:c.1803G>A	ENSP00000302728.4:p.Val601=
ENST00000421103.5:c.1365G>A	ENSP00000391390.1:p.Val455=
ENST00000430730.5:c.*1070G>A	ENSP00000411859.1:n.*1070G>A
ENST00000447929.5:c.*1183G>A	ENSP00000411262.1:n.*1183G>A
ENST00000466883.5:n.2193G>A
NM_000181.3:c.1803G>A	NP_000172.2:p.Val601=
NM_001284290.1:c.1365G>A	NP_001271219.1:p.Val455=
NM_001293104.1:c.1233G>A	NP_001280033.1:p.Val411=
NM_001293105.1:c.1146G>A	NP_001280034.1:p.Val382=
NR_120531.1:n.1849G>A
XM_005250297.3:c.1650G>A	XP_005250354.1:p.Val550=
XM_011516113.1:c.1302G>A	XP_011514415.1:p.Val434=
XM_011516114.1:c.1131G>A	XP_011514416.1:p.Val377=
XM_005250297.4:c.1650G>A	XP_005250354.1:p.Val550=
XM_011516114.2:c.1131G>A	XP_011514416.1:p.Val377=
XM_017012091.1:c.1149G>A	XP_016867580.1:p.Val383=
XM_017012092.1:c.1080G>A	XP_016867581.1:p.Val360=
XM_017012093.2:c.978G>A	XP_016867582.1:p.Val326=
XR_001744658.2:n.1610G>A
XR_001744659.2:n.1723G>A
XR_001744660.2:n.1655G>A
XR_001744661.2:n.1570G>A
XR_927461.3:n.1808G>A
NM_000181.4:c.1803G>A MANE Select	NP_000172.2:p.Val601=
NM_001284290.2:c.1365G>A	NP_001271219.1:p.Val455=
NM_001293104.2:c.1233G>A	NP_001280033.1:p.Val411=
NM_001293105.2:c.1146G>A	NP_001280034.1:p.Val382=
NR_120531.2:n.1748G>A