Canonical Allele Identifier: CA367637727

Gene: GUSB

Linked Data

• gnomAD v4: 7-65961061-G-T
• MyVariant Identifiers: chr7:g.65426048G>T (hg19) ; chr7:g.65961061G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961061G>T , CM000669.2:g.65961061G>T	GRCh38
NC_000007.13:g.65426048G>T , CM000669.1:g.65426048G>T	GRCh37
NC_000007.12:g.65063483G>T	NCBI36
NG_016197.1:g.26254C>A
NG_051954.1:g.92963G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1792C>A MANE Select	ENSP00000302728.4:p.Pro598Thr
ENST00000304895.8:c.1792C>A	ENSP00000302728.4:p.Pro598Thr
ENST00000421103.5:c.1354C>A	ENSP00000391390.1:p.Pro452Thr
ENST00000430730.5:c.*1059C>A	ENSP00000411859.1:n.*1059C>A
ENST00000447929.5:c.*1172C>A	ENSP00000411262.1:n.*1172C>A
ENST00000466883.5:n.2182C>A
NM_000181.3:c.1792C>A	NP_000172.2:p.Pro598Thr
NM_001284290.1:c.1354C>A	NP_001271219.1:p.Pro452Thr
NM_001293104.1:c.1222C>A	NP_001280033.1:p.Pro408Thr
NM_001293105.1:c.1135C>A	NP_001280034.1:p.Pro379Thr
NR_120531.1:n.1838C>A
XM_005250297.3:c.1639C>A	XP_005250354.1:p.Pro547Thr
XM_011516113.1:c.1291C>A	XP_011514415.1:p.Pro431Thr
XM_011516114.1:c.1120C>A	XP_011514416.1:p.Pro374Thr
XM_005250297.4:c.1639C>A	XP_005250354.1:p.Pro547Thr
XM_011516114.2:c.1120C>A	XP_011514416.1:p.Pro374Thr
XM_017012091.1:c.1138C>A	XP_016867580.1:p.Pro380Thr
XM_017012092.1:c.1069C>A	XP_016867581.1:p.Pro357Thr
XM_017012093.2:c.967C>A	XP_016867582.1:p.Pro323Thr
XR_001744658.2:n.1599C>A
XR_001744659.2:n.1712C>A
XR_001744660.2:n.1644C>A
XR_001744661.2:n.1559C>A
XR_927461.3:n.1797C>A
NM_000181.4:c.1792C>A MANE Select	NP_000172.2:p.Pro598Thr
NM_001284290.2:c.1354C>A	NP_001271219.1:p.Pro452Thr
NM_001293104.2:c.1222C>A	NP_001280033.1:p.Pro408Thr
NM_001293105.2:c.1135C>A	NP_001280034.1:p.Pro379Thr
NR_120531.2:n.1737C>A