Canonical Allele Identifier: CA367640129

Gene: GUSB

Linked Data

• gnomAD v4: 7-65967819-G-T
• MyVariant Identifiers: chr7:g.65432806G>T (hg19) ; chr7:g.65967819G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1565C>A MANE Select	ENSP00000302728.4:p.Ala522Asp
ENST00000304895.8:c.1565C>A	ENSP00000302728.4:p.Ala522Asp
ENST00000421103.5:c.1127C>A	ENSP00000391390.1:p.Ala376Asp
ENST00000430730.5:c.*832C>A	ENSP00000411859.1:n.*832C>A
ENST00000447929.5:c.*945C>A	ENSP00000411262.1:n.*945C>A
ENST00000461622.1:n.90C>A
ENST00000462371.1:n.603C>A
ENST00000466883.5:n.1955C>A
NM_000181.3:c.1565C>A	NP_000172.2:p.Ala522Asp
NM_001284290.1:c.1127C>A	NP_001271219.1:p.Ala376Asp
NM_001293104.1:c.995C>A	NP_001280033.1:p.Ala332Asp
NM_001293105.1:c.908C>A	NP_001280034.1:p.Ala303Asp
NR_120531.1:n.1611C>A
XM_005250297.3:c.1412C>A	XP_005250354.1:p.Ala471Asp
XM_011516113.1:c.1064C>A	XP_011514415.1:p.Ala355Asp
XM_011516114.1:c.893C>A	XP_011514416.1:p.Ala298Asp
XR_927461.1:n.1651C>A
XM_005250297.4:c.1412C>A	XP_005250354.1:p.Ala471Asp
XM_011516114.2:c.893C>A	XP_011514416.1:p.Ala298Asp
XM_017012091.1:c.911C>A	XP_016867580.1:p.Ala304Asp
XM_017012092.1:c.842C>A	XP_016867581.1:p.Ala281Asp
XM_017012093.2:c.740C>A	XP_016867582.1:p.Ala247Asp
XR_001744658.2:n.1372C>A
XR_001744659.2:n.1485C>A
XR_001744660.2:n.1417C>A
XR_001744661.2:n.1332C>A
XR_927461.3:n.1570C>A
NM_000181.4:c.1565C>A MANE Select	NP_000172.2:p.Ala522Asp
NM_001284290.2:c.1127C>A	NP_001271219.1:p.Ala376Asp
NM_001293104.2:c.995C>A	NP_001280033.1:p.Ala332Asp
NM_001293105.2:c.908C>A	NP_001280034.1:p.Ala303Asp
NR_120531.2:n.1510C>A