Canonical Allele Identifier: CA367640126

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432806G>C (hg19) ; chr7:g.65967819G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967819G>C , CM000669.2:g.65967819G>C	GRCh38
NC_000007.13:g.65432806G>C , CM000669.1:g.65432806G>C	GRCh37
NC_000007.12:g.65070241G>C	NCBI36
NG_016197.1:g.19496C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1565C>G MANE Select	ENSP00000302728.4:p.Ala522Gly
ENST00000304895.8:c.1565C>G	ENSP00000302728.4:p.Ala522Gly
ENST00000421103.5:c.1127C>G	ENSP00000391390.1:p.Ala376Gly
ENST00000430730.5:c.*832C>G	ENSP00000411859.1:n.*832C>G
ENST00000447929.5:c.*945C>G	ENSP00000411262.1:n.*945C>G
ENST00000461622.1:n.90C>G
ENST00000462371.1:n.603C>G
ENST00000466883.5:n.1955C>G
NM_000181.3:c.1565C>G	NP_000172.2:p.Ala522Gly
NM_001284290.1:c.1127C>G	NP_001271219.1:p.Ala376Gly
NM_001293104.1:c.995C>G	NP_001280033.1:p.Ala332Gly
NM_001293105.1:c.908C>G	NP_001280034.1:p.Ala303Gly
NR_120531.1:n.1611C>G
XM_005250297.3:c.1412C>G	XP_005250354.1:p.Ala471Gly
XM_011516113.1:c.1064C>G	XP_011514415.1:p.Ala355Gly
XM_011516114.1:c.893C>G	XP_011514416.1:p.Ala298Gly
XR_927461.1:n.1651C>G
XM_005250297.4:c.1412C>G	XP_005250354.1:p.Ala471Gly
XM_011516114.2:c.893C>G	XP_011514416.1:p.Ala298Gly
XM_017012091.1:c.911C>G	XP_016867580.1:p.Ala304Gly
XM_017012092.1:c.842C>G	XP_016867581.1:p.Ala281Gly
XM_017012093.2:c.740C>G	XP_016867582.1:p.Ala247Gly
XR_001744658.2:n.1372C>G
XR_001744659.2:n.1485C>G
XR_001744660.2:n.1417C>G
XR_001744661.2:n.1332C>G
XR_927461.3:n.1570C>G
NM_000181.4:c.1565C>G MANE Select	NP_000172.2:p.Ala522Gly
NM_001284290.2:c.1127C>G	NP_001271219.1:p.Ala376Gly
NM_001293104.2:c.995C>G	NP_001280033.1:p.Ala332Gly
NM_001293105.2:c.908C>G	NP_001280034.1:p.Ala303Gly
NR_120531.2:n.1510C>G