Canonical Allele Identifier: CA367637671

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65426038A>T (hg19) ; chr7:g.65961051A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961051A>T , CM000669.2:g.65961051A>T	GRCh38
NC_000007.13:g.65426038A>T , CM000669.1:g.65426038A>T	GRCh37
NC_000007.12:g.65063473A>T	NCBI36
NG_016197.1:g.26264T>A
NG_051954.1:g.92953A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1802T>A MANE Select	ENSP00000302728.4:p.Val601Glu
ENST00000304895.8:c.1802T>A	ENSP00000302728.4:p.Val601Glu
ENST00000421103.5:c.1364T>A	ENSP00000391390.1:p.Val455Glu
ENST00000430730.5:c.*1069T>A	ENSP00000411859.1:n.*1069T>A
ENST00000447929.5:c.*1182T>A	ENSP00000411262.1:n.*1182T>A
ENST00000466883.5:n.2192T>A
NM_000181.3:c.1802T>A	NP_000172.2:p.Val601Glu
NM_001284290.1:c.1364T>A	NP_001271219.1:p.Val455Glu
NM_001293104.1:c.1232T>A	NP_001280033.1:p.Val411Glu
NM_001293105.1:c.1145T>A	NP_001280034.1:p.Val382Glu
NR_120531.1:n.1848T>A
XM_005250297.3:c.1649T>A	XP_005250354.1:p.Val550Glu
XM_011516113.1:c.1301T>A	XP_011514415.1:p.Val434Glu
XM_011516114.1:c.1130T>A	XP_011514416.1:p.Val377Glu
XM_005250297.4:c.1649T>A	XP_005250354.1:p.Val550Glu
XM_011516114.2:c.1130T>A	XP_011514416.1:p.Val377Glu
XM_017012091.1:c.1148T>A	XP_016867580.1:p.Val383Glu
XM_017012092.1:c.1079T>A	XP_016867581.1:p.Val360Glu
XM_017012093.2:c.977T>A	XP_016867582.1:p.Val326Glu
XR_001744658.2:n.1609T>A
XR_001744659.2:n.1722T>A
XR_001744660.2:n.1654T>A
XR_001744661.2:n.1569T>A
XR_927461.3:n.1807T>A
NM_000181.4:c.1802T>A MANE Select	NP_000172.2:p.Val601Glu
NM_001284290.2:c.1364T>A	NP_001271219.1:p.Val455Glu
NM_001293104.2:c.1232T>A	NP_001280033.1:p.Val411Glu
NM_001293105.2:c.1145T>A	NP_001280034.1:p.Val382Glu
NR_120531.2:n.1747T>A