Canonical Allele Identifier: CA367637643

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65426032C>T (hg19) ; chr7:g.65961045C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961045C>T , CM000669.2:g.65961045C>T	GRCh38
NC_000007.13:g.65426032C>T , CM000669.1:g.65426032C>T	GRCh37
NC_000007.12:g.65063467C>T	NCBI36
NG_016197.1:g.26270G>A
NG_051954.1:g.92947C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1808G>A MANE Select	ENSP00000302728.4:p.Gly603Glu
ENST00000304895.8:c.1808G>A	ENSP00000302728.4:p.Gly603Glu
ENST00000421103.5:c.1370G>A	ENSP00000391390.1:p.Gly457Glu
ENST00000430730.5:c.*1075G>A	ENSP00000411859.1:n.*1075G>A
ENST00000447929.5:c.*1188G>A	ENSP00000411262.1:n.*1188G>A
ENST00000466883.5:n.2198G>A
NM_000181.3:c.1808G>A	NP_000172.2:p.Gly603Glu
NM_001284290.1:c.1370G>A	NP_001271219.1:p.Gly457Glu
NM_001293104.1:c.1238G>A	NP_001280033.1:p.Gly413Glu
NM_001293105.1:c.1151G>A	NP_001280034.1:p.Gly384Glu
NR_120531.1:n.1854G>A
XM_005250297.3:c.1655G>A	XP_005250354.1:p.Gly552Glu
XM_011516113.1:c.1307G>A	XP_011514415.1:p.Gly436Glu
XM_011516114.1:c.1136G>A	XP_011514416.1:p.Gly379Glu
XM_005250297.4:c.1655G>A	XP_005250354.1:p.Gly552Glu
XM_011516114.2:c.1136G>A	XP_011514416.1:p.Gly379Glu
XM_017012091.1:c.1154G>A	XP_016867580.1:p.Gly385Glu
XM_017012092.1:c.1085G>A	XP_016867581.1:p.Gly362Glu
XM_017012093.2:c.983G>A	XP_016867582.1:p.Gly328Glu
XR_001744658.2:n.1615G>A
XR_001744659.2:n.1728G>A
XR_001744660.2:n.1660G>A
XR_001744661.2:n.1575G>A
XR_927461.3:n.1813G>A
NM_000181.4:c.1808G>A MANE Select	NP_000172.2:p.Gly603Glu
NM_001284290.2:c.1370G>A	NP_001271219.1:p.Gly457Glu
NM_001293104.2:c.1238G>A	NP_001280033.1:p.Gly413Glu
NM_001293105.2:c.1151G>A	NP_001280034.1:p.Gly384Glu
NR_120531.2:n.1753G>A