Canonical Allele Identifier: CA367636969

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425898T>A (hg19) ; chr7:g.65960911T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960911T>A , CM000669.2:g.65960911T>A	GRCh38
NC_000007.13:g.65425898T>A , CM000669.1:g.65425898T>A	GRCh37
NC_000007.12:g.65063333T>A	NCBI36
NG_016197.1:g.26404A>T
NG_051954.1:g.92813T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1942A>T MANE Select	ENSP00000302728.4:p.Ser648Cys
ENST00000304895.8:c.1942A>T	ENSP00000302728.4:p.Ser648Cys
ENST00000421103.5:c.1504A>T	ENSP00000391390.1:p.Ser502Cys
ENST00000430730.5:c.*1209A>T	ENSP00000411859.1:n.*1209A>T
ENST00000447929.5:c.*1322A>T	ENSP00000411262.1:n.*1322A>T
ENST00000466883.5:n.2332A>T
NM_000181.3:c.1942A>T	NP_000172.2:p.Ser648Cys
NM_001284290.1:c.1504A>T	NP_001271219.1:p.Ser502Cys
NM_001293104.1:c.1372A>T	NP_001280033.1:p.Ser458Cys
NM_001293105.1:c.1285A>T	NP_001280034.1:p.Ser429Cys
NR_120531.1:n.1988A>T
XM_005250297.3:c.1789A>T	XP_005250354.1:p.Ser597Cys
XM_011516113.1:c.1441A>T	XP_011514415.1:p.Ser481Cys
XM_011516114.1:c.1270A>T	XP_011514416.1:p.Ser424Cys
XM_005250297.4:c.1789A>T	XP_005250354.1:p.Ser597Cys
XM_011516114.2:c.1270A>T	XP_011514416.1:p.Ser424Cys
XM_017012091.1:c.1288A>T	XP_016867580.1:p.Ser430Cys
XM_017012092.1:c.1219A>T	XP_016867581.1:p.Ser407Cys
XM_017012093.2:c.1117A>T	XP_016867582.1:p.Ser373Cys
XR_001744658.2:n.1749A>T
XR_001744659.2:n.1862A>T
XR_001744660.2:n.1794A>T
XR_001744661.2:n.1709A>T
XR_927461.3:n.1947A>T
NM_000181.4:c.1942A>T MANE Select	NP_000172.2:p.Ser648Cys
NM_001284290.2:c.1504A>T	NP_001271219.1:p.Ser502Cys
NM_001293104.2:c.1372A>T	NP_001280033.1:p.Ser458Cys
NM_001293105.2:c.1285A>T	NP_001280034.1:p.Ser429Cys
NR_120531.2:n.1887A>T