Canonical Allele Identifier: CA367637016

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425908A>T (hg19) ; chr7:g.65960921A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960921A>T , CM000669.2:g.65960921A>T	GRCh38
NC_000007.13:g.65425908A>T , CM000669.1:g.65425908A>T	GRCh37
NC_000007.12:g.65063343A>T	NCBI36
NG_016197.1:g.26394T>A
NG_051954.1:g.92823A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1932T>A MANE Select	ENSP00000302728.4:p.Cys644Ter
ENST00000304895.8:c.1932T>A	ENSP00000302728.4:p.Cys644Ter
ENST00000421103.5:c.1494T>A	ENSP00000391390.1:p.Cys498Ter
ENST00000430730.5:c.*1199T>A	ENSP00000411859.1:n.*1199T>A
ENST00000447929.5:c.*1312T>A	ENSP00000411262.1:n.*1312T>A
ENST00000466883.5:n.2322T>A
NM_000181.3:c.1932T>A	NP_000172.2:p.Cys644Ter
NM_001284290.1:c.1494T>A	NP_001271219.1:p.Cys498Ter
NM_001293104.1:c.1362T>A	NP_001280033.1:p.Cys454Ter
NM_001293105.1:c.1275T>A	NP_001280034.1:p.Cys425Ter
NR_120531.1:n.1978T>A
XM_005250297.3:c.1779T>A	XP_005250354.1:p.Cys593Ter
XM_011516113.1:c.1431T>A	XP_011514415.1:p.Cys477Ter
XM_011516114.1:c.1260T>A	XP_011514416.1:p.Cys420Ter
XM_005250297.4:c.1779T>A	XP_005250354.1:p.Cys593Ter
XM_011516114.2:c.1260T>A	XP_011514416.1:p.Cys420Ter
XM_017012091.1:c.1278T>A	XP_016867580.1:p.Cys426Ter
XM_017012092.1:c.1209T>A	XP_016867581.1:p.Cys403Ter
XM_017012093.2:c.1107T>A	XP_016867582.1:p.Cys369Ter
XR_001744658.2:n.1739T>A
XR_001744659.2:n.1852T>A
XR_001744660.2:n.1784T>A
XR_001744661.2:n.1699T>A
XR_927461.3:n.1937T>A
NM_000181.4:c.1932T>A MANE Select	NP_000172.2:p.Cys644Ter
NM_001284290.2:c.1494T>A	NP_001271219.1:p.Cys498Ter
NM_001293104.2:c.1362T>A	NP_001280033.1:p.Cys454Ter
NM_001293105.2:c.1275T>A	NP_001280034.1:p.Cys425Ter
NR_120531.2:n.1877T>A