Canonical Allele Identifier: CA367637103

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425928A>T (hg19) ; chr7:g.65960941A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960941A>T , CM000669.2:g.65960941A>T	GRCh38
NC_000007.13:g.65425928A>T , CM000669.1:g.65425928A>T	GRCh37
NC_000007.12:g.65063363A>T	NCBI36
NG_016197.1:g.26374T>A
NG_051954.1:g.92843A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1912T>A MANE Select	ENSP00000302728.4:p.Ser638Thr
ENST00000304895.8:c.1912T>A	ENSP00000302728.4:p.Ser638Thr
ENST00000421103.5:c.1474T>A	ENSP00000391390.1:p.Ser492Thr
ENST00000430730.5:c.*1179T>A	ENSP00000411859.1:n.*1179T>A
ENST00000447929.5:c.*1292T>A	ENSP00000411262.1:n.*1292T>A
ENST00000466883.5:n.2302T>A
NM_000181.3:c.1912T>A	NP_000172.2:p.Ser638Thr
NM_001284290.1:c.1474T>A	NP_001271219.1:p.Ser492Thr
NM_001293104.1:c.1342T>A	NP_001280033.1:p.Ser448Thr
NM_001293105.1:c.1255T>A	NP_001280034.1:p.Ser419Thr
NR_120531.1:n.1958T>A
XM_005250297.3:c.1759T>A	XP_005250354.1:p.Ser587Thr
XM_011516113.1:c.1411T>A	XP_011514415.1:p.Ser471Thr
XM_011516114.1:c.1240T>A	XP_011514416.1:p.Ser414Thr
XM_005250297.4:c.1759T>A	XP_005250354.1:p.Ser587Thr
XM_011516114.2:c.1240T>A	XP_011514416.1:p.Ser414Thr
XM_017012091.1:c.1258T>A	XP_016867580.1:p.Ser420Thr
XM_017012092.1:c.1189T>A	XP_016867581.1:p.Ser397Thr
XM_017012093.2:c.1087T>A	XP_016867582.1:p.Ser363Thr
XR_001744658.2:n.1719T>A
XR_001744659.2:n.1832T>A
XR_001744660.2:n.1764T>A
XR_001744661.2:n.1679T>A
XR_927461.3:n.1917T>A
NM_000181.4:c.1912T>A MANE Select	NP_000172.2:p.Ser638Thr
NM_001284290.2:c.1474T>A	NP_001271219.1:p.Ser492Thr
NM_001293104.2:c.1342T>A	NP_001280033.1:p.Ser448Thr
NM_001293105.2:c.1255T>A	NP_001280034.1:p.Ser419Thr
NR_120531.2:n.1857T>A