Canonical Allele Identifier: CA367640120

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432804T>G (hg19) ; chr7:g.65967817T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967817T>G , CM000669.2:g.65967817T>G	GRCh38
NC_000007.13:g.65432804T>G , CM000669.1:g.65432804T>G	GRCh37
NC_000007.12:g.65070239T>G	NCBI36
NG_016197.1:g.19498A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1567A>C MANE Select	ENSP00000302728.4:p.Thr523Pro
ENST00000304895.8:c.1567A>C	ENSP00000302728.4:p.Thr523Pro
ENST00000421103.5:c.1129A>C	ENSP00000391390.1:p.Thr377Pro
ENST00000430730.5:c.*834A>C	ENSP00000411859.1:n.*834A>C
ENST00000447929.5:c.*947A>C	ENSP00000411262.1:n.*947A>C
ENST00000461622.1:n.92A>C
ENST00000462371.1:n.605A>C
ENST00000466883.5:n.1957A>C
NM_000181.3:c.1567A>C	NP_000172.2:p.Thr523Pro
NM_001284290.1:c.1129A>C	NP_001271219.1:p.Thr377Pro
NM_001293104.1:c.997A>C	NP_001280033.1:p.Thr333Pro
NM_001293105.1:c.910A>C	NP_001280034.1:p.Thr304Pro
NR_120531.1:n.1613A>C
XM_005250297.3:c.1414A>C	XP_005250354.1:p.Thr472Pro
XM_011516113.1:c.1066A>C	XP_011514415.1:p.Thr356Pro
XM_011516114.1:c.895A>C	XP_011514416.1:p.Thr299Pro
XR_927461.1:n.1653A>C
XM_005250297.4:c.1414A>C	XP_005250354.1:p.Thr472Pro
XM_011516114.2:c.895A>C	XP_011514416.1:p.Thr299Pro
XM_017012091.1:c.913A>C	XP_016867580.1:p.Thr305Pro
XM_017012092.1:c.844A>C	XP_016867581.1:p.Thr282Pro
XM_017012093.2:c.742A>C	XP_016867582.1:p.Thr248Pro
XR_001744658.2:n.1374A>C
XR_001744659.2:n.1487A>C
XR_001744660.2:n.1419A>C
XR_001744661.2:n.1334A>C
XR_927461.3:n.1572A>C
NM_000181.4:c.1567A>C MANE Select	NP_000172.2:p.Thr523Pro
NM_001284290.2:c.1129A>C	NP_001271219.1:p.Thr377Pro
NM_001293104.2:c.997A>C	NP_001280033.1:p.Thr333Pro
NM_001293105.2:c.910A>C	NP_001280034.1:p.Thr304Pro
NR_120531.2:n.1512A>C