Canonical Allele Identifier: CA367636998

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425904C>A (hg19) ; chr7:g.65960917C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960917C>A , CM000669.2:g.65960917C>A	GRCh38
NC_000007.13:g.65425904C>A , CM000669.1:g.65425904C>A	GRCh37
NC_000007.12:g.65063339C>A	NCBI36
NG_016197.1:g.26398G>T
NG_051954.1:g.92819C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1936G>T MANE Select	ENSP00000302728.4:p.Glu646Ter
ENST00000304895.8:c.1936G>T	ENSP00000302728.4:p.Glu646Ter
ENST00000421103.5:c.1498G>T	ENSP00000391390.1:p.Glu500Ter
ENST00000430730.5:c.*1203G>T	ENSP00000411859.1:n.*1203G>T
ENST00000447929.5:c.*1316G>T	ENSP00000411262.1:n.*1316G>T
ENST00000466883.5:n.2326G>T
NM_000181.3:c.1936G>T	NP_000172.2:p.Glu646Ter
NM_001284290.1:c.1498G>T	NP_001271219.1:p.Glu500Ter
NM_001293104.1:c.1366G>T	NP_001280033.1:p.Glu456Ter
NM_001293105.1:c.1279G>T	NP_001280034.1:p.Glu427Ter
NR_120531.1:n.1982G>T
XM_005250297.3:c.1783G>T	XP_005250354.1:p.Glu595Ter
XM_011516113.1:c.1435G>T	XP_011514415.1:p.Glu479Ter
XM_011516114.1:c.1264G>T	XP_011514416.1:p.Glu422Ter
XM_005250297.4:c.1783G>T	XP_005250354.1:p.Glu595Ter
XM_011516114.2:c.1264G>T	XP_011514416.1:p.Glu422Ter
XM_017012091.1:c.1282G>T	XP_016867580.1:p.Glu428Ter
XM_017012092.1:c.1213G>T	XP_016867581.1:p.Glu405Ter
XM_017012093.2:c.1111G>T	XP_016867582.1:p.Glu371Ter
XR_001744658.2:n.1743G>T
XR_001744659.2:n.1856G>T
XR_001744660.2:n.1788G>T
XR_001744661.2:n.1703G>T
XR_927461.3:n.1941G>T
NM_000181.4:c.1936G>T MANE Select	NP_000172.2:p.Glu646Ter
NM_001284290.2:c.1498G>T	NP_001271219.1:p.Glu500Ter
NM_001293104.2:c.1366G>T	NP_001280033.1:p.Glu456Ter
NM_001293105.2:c.1279G>T	NP_001280034.1:p.Glu427Ter
NR_120531.2:n.1881G>T