Canonical Allele Identifier: CA367637046

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425915G>T (hg19) ; chr7:g.65960928G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960928G>T , CM000669.2:g.65960928G>T	GRCh38
NC_000007.13:g.65425915G>T , CM000669.1:g.65425915G>T	GRCh37
NC_000007.12:g.65063350G>T	NCBI36
NG_016197.1:g.26387C>A
NG_051954.1:g.92830G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1925C>A MANE Select	ENSP00000302728.4:p.Ser642Ter
ENST00000304895.8:c.1925C>A	ENSP00000302728.4:p.Ser642Ter
ENST00000421103.5:c.1487C>A	ENSP00000391390.1:p.Ser496Ter
ENST00000430730.5:c.*1192C>A	ENSP00000411859.1:n.*1192C>A
ENST00000447929.5:c.*1305C>A	ENSP00000411262.1:n.*1305C>A
ENST00000466883.5:n.2315C>A
NM_000181.3:c.1925C>A	NP_000172.2:p.Ser642Ter
NM_001284290.1:c.1487C>A	NP_001271219.1:p.Ser496Ter
NM_001293104.1:c.1355C>A	NP_001280033.1:p.Ser452Ter
NM_001293105.1:c.1268C>A	NP_001280034.1:p.Ser423Ter
NR_120531.1:n.1971C>A
XM_005250297.3:c.1772C>A	XP_005250354.1:p.Ser591Ter
XM_011516113.1:c.1424C>A	XP_011514415.1:p.Ser475Ter
XM_011516114.1:c.1253C>A	XP_011514416.1:p.Ser418Ter
XM_005250297.4:c.1772C>A	XP_005250354.1:p.Ser591Ter
XM_011516114.2:c.1253C>A	XP_011514416.1:p.Ser418Ter
XM_017012091.1:c.1271C>A	XP_016867580.1:p.Ser424Ter
XM_017012092.1:c.1202C>A	XP_016867581.1:p.Ser401Ter
XM_017012093.2:c.1100C>A	XP_016867582.1:p.Ser367Ter
XR_001744658.2:n.1732C>A
XR_001744659.2:n.1845C>A
XR_001744660.2:n.1777C>A
XR_001744661.2:n.1692C>A
XR_927461.3:n.1930C>A
NM_000181.4:c.1925C>A MANE Select	NP_000172.2:p.Ser642Ter
NM_001284290.2:c.1487C>A	NP_001271219.1:p.Ser496Ter
NM_001293104.2:c.1355C>A	NP_001280033.1:p.Ser452Ter
NM_001293105.2:c.1268C>A	NP_001280034.1:p.Ser423Ter
NR_120531.2:n.1870C>A