Canonical Allele Identifier: CA455442458

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432766G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967779G>T , CM000669.2:g.65967779G>T	GRCh38
NC_000007.13:g.65432766G>T , CM000669.1:g.65432766G>T	GRCh37
NC_000007.12:g.65070201G>T	NCBI36
NG_016197.1:g.19536C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1605C>A MANE Select	ENSP00000302728.4:p.Pro535=
ENST00000304895.8:c.1605C>A	ENSP00000302728.4:p.Pro535=
ENST00000421103.5:c.1167C>A	ENSP00000391390.1:p.Pro389=
ENST00000430730.5:c.*872C>A	ENSP00000411859.1:n.*872C>A
ENST00000447929.5:c.*985C>A	ENSP00000411262.1:n.*985C>A
ENST00000461622.1:n.130C>A
ENST00000462371.1:n.643C>A
ENST00000466883.5:n.1995C>A
NM_000181.3:c.1605C>A	NP_000172.2:p.Pro535=
NM_001284290.1:c.1167C>A	NP_001271219.1:p.Pro389=
NM_001293104.1:c.1035C>A	NP_001280033.1:p.Pro345=
NM_001293105.1:c.948C>A	NP_001280034.1:p.Pro316=
NR_120531.1:n.1651C>A
XM_005250297.3:c.1452C>A	XP_005250354.1:p.Pro484=
XM_011516113.1:c.1104C>A	XP_011514415.1:p.Pro368=
XM_011516114.1:c.933C>A	XP_011514416.1:p.Pro311=
XR_927461.1:n.1691C>A
XM_005250297.4:c.1452C>A	XP_005250354.1:p.Pro484=
XM_011516114.2:c.933C>A	XP_011514416.1:p.Pro311=
XM_017012091.1:c.951C>A	XP_016867580.1:p.Pro317=
XM_017012092.1:c.882C>A	XP_016867581.1:p.Pro294=
XM_017012093.2:c.780C>A	XP_016867582.1:p.Pro260=
XR_001744658.2:n.1412C>A
XR_001744659.2:n.1525C>A
XR_001744660.2:n.1457C>A
XR_001744661.2:n.1372C>A
XR_927461.3:n.1610C>A
NM_000181.4:c.1605C>A MANE Select	NP_000172.2:p.Pro535=
NM_001284290.2:c.1167C>A	NP_001271219.1:p.Pro389=
NM_001293104.2:c.1035C>A	NP_001280033.1:p.Pro345=
NM_001293105.2:c.948C>A	NP_001280034.1:p.Pro316=
NR_120531.2:n.1550C>A