Canonical Allele Identifier: CA367637445

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65426001T>G (hg19) ; chr7:g.65961014T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961014T>G , CM000669.2:g.65961014T>G	GRCh38
NC_000007.13:g.65426001T>G , CM000669.1:g.65426001T>G	GRCh37
NC_000007.12:g.65063436T>G	NCBI36
NG_016197.1:g.26301A>C
NG_051954.1:g.92916T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1839A>C MANE Select	ENSP00000302728.4:p.Arg613Ser
ENST00000304895.8:c.1839A>C	ENSP00000302728.4:p.Arg613Ser
ENST00000421103.5:c.1401A>C	ENSP00000391390.1:p.Arg467Ser
ENST00000430730.5:c.*1106A>C	ENSP00000411859.1:n.*1106A>C
ENST00000447929.5:c.*1219A>C	ENSP00000411262.1:n.*1219A>C
ENST00000466883.5:n.2229A>C
NM_000181.3:c.1839A>C	NP_000172.2:p.Arg613Ser
NM_001284290.1:c.1401A>C	NP_001271219.1:p.Arg467Ser
NM_001293104.1:c.1269A>C	NP_001280033.1:p.Arg423Ser
NM_001293105.1:c.1182A>C	NP_001280034.1:p.Arg394Ser
NR_120531.1:n.1885A>C
XM_005250297.3:c.1686A>C	XP_005250354.1:p.Arg562Ser
XM_011516113.1:c.1338A>C	XP_011514415.1:p.Arg446Ser
XM_011516114.1:c.1167A>C	XP_011514416.1:p.Arg389Ser
XM_005250297.4:c.1686A>C	XP_005250354.1:p.Arg562Ser
XM_011516114.2:c.1167A>C	XP_011514416.1:p.Arg389Ser
XM_017012091.1:c.1185A>C	XP_016867580.1:p.Arg395Ser
XM_017012092.1:c.1116A>C	XP_016867581.1:p.Arg372Ser
XM_017012093.2:c.1014A>C	XP_016867582.1:p.Arg338Ser
XR_001744658.2:n.1646A>C
XR_001744659.2:n.1759A>C
XR_001744660.2:n.1691A>C
XR_001744661.2:n.1606A>C
XR_927461.3:n.1844A>C
NM_000181.4:c.1839A>C MANE Select	NP_000172.2:p.Arg613Ser
NM_001284290.2:c.1401A>C	NP_001271219.1:p.Arg467Ser
NM_001293104.2:c.1269A>C	NP_001280033.1:p.Arg423Ser
NM_001293105.2:c.1182A>C	NP_001280034.1:p.Arg394Ser
NR_120531.2:n.1784A>C