Canonical Allele Identifier: CA367639760

Gene: GUSB

Linked Data

• gnomAD v4: 7-65967745-C-T
• MyVariant Identifiers: chr7:g.65432732C>T (hg19) ; chr7:g.65967745C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967745C>T , CM000669.2:g.65967745C>T	GRCh38
NC_000007.13:g.65432732C>T , CM000669.1:g.65432732C>T	GRCh37
NC_000007.12:g.65070167C>T	NCBI36
NG_016197.1:g.19570G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1639G>A MANE Select	ENSP00000302728.4:p.Ala547Thr
ENST00000304895.8:c.1639G>A	ENSP00000302728.4:p.Ala547Thr
ENST00000421103.5:c.1201G>A	ENSP00000391390.1:p.Ala401Thr
ENST00000430730.5:c.*906G>A	ENSP00000411859.1:n.*906G>A
ENST00000447929.5:c.*1019G>A	ENSP00000411262.1:n.*1019G>A
ENST00000461622.1:n.164G>A
ENST00000462371.1:n.677G>A
ENST00000466883.5:n.2029G>A
NM_000181.3:c.1639G>A	NP_000172.2:p.Ala547Thr
NM_001284290.1:c.1201G>A	NP_001271219.1:p.Ala401Thr
NM_001293104.1:c.1069G>A	NP_001280033.1:p.Ala357Thr
NM_001293105.1:c.982G>A	NP_001280034.1:p.Ala328Thr
NR_120531.1:n.1685G>A
XM_005250297.3:c.1486G>A	XP_005250354.1:p.Ala496Thr
XM_011516113.1:c.1138G>A	XP_011514415.1:p.Ala380Thr
XM_011516114.1:c.967G>A	XP_011514416.1:p.Ala323Thr
XR_927461.1:n.1725G>A
XM_005250297.4:c.1486G>A	XP_005250354.1:p.Ala496Thr
XM_011516114.2:c.967G>A	XP_011514416.1:p.Ala323Thr
XM_017012091.1:c.985G>A	XP_016867580.1:p.Ala329Thr
XM_017012092.1:c.916G>A	XP_016867581.1:p.Ala306Thr
XM_017012093.2:c.814G>A	XP_016867582.1:p.Ala272Thr
XR_001744658.2:n.1446G>A
XR_001744659.2:n.1559G>A
XR_001744660.2:n.1491G>A
XR_001744661.2:n.1406G>A
XR_927461.3:n.1644G>A
NM_000181.4:c.1639G>A MANE Select	NP_000172.2:p.Ala547Thr
NM_001284290.2:c.1201G>A	NP_001271219.1:p.Ala401Thr
NM_001293104.2:c.1069G>A	NP_001280033.1:p.Ala357Thr
NM_001293105.2:c.982G>A	NP_001280034.1:p.Ala328Thr
NR_120531.2:n.1584G>A