Canonical Allele Identifier: CA367637001

Gene: GUSB

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1936G>A MANE Select	ENSP00000302728.4:p.Glu646Lys
ENST00000304895.8:c.1936G>A	ENSP00000302728.4:p.Glu646Lys
ENST00000421103.5:c.1498G>A	ENSP00000391390.1:p.Glu500Lys
ENST00000430730.5:c.*1203G>A	ENSP00000411859.1:n.*1203G>A
ENST00000447929.5:c.*1316G>A	ENSP00000411262.1:n.*1316G>A
ENST00000466883.5:n.2326G>A
NM_000181.3:c.1936G>A	NP_000172.2:p.Glu646Lys
NM_001284290.1:c.1498G>A	NP_001271219.1:p.Glu500Lys
NM_001293104.1:c.1366G>A	NP_001280033.1:p.Glu456Lys
NM_001293105.1:c.1279G>A	NP_001280034.1:p.Glu427Lys
NR_120531.1:n.1982G>A
XM_005250297.3:c.1783G>A	XP_005250354.1:p.Glu595Lys
XM_011516113.1:c.1435G>A	XP_011514415.1:p.Glu479Lys
XM_011516114.1:c.1264G>A	XP_011514416.1:p.Glu422Lys
XM_005250297.4:c.1783G>A	XP_005250354.1:p.Glu595Lys
XM_011516114.2:c.1264G>A	XP_011514416.1:p.Glu422Lys
XM_017012091.1:c.1282G>A	XP_016867580.1:p.Glu428Lys
XM_017012092.1:c.1213G>A	XP_016867581.1:p.Glu405Lys
XM_017012093.2:c.1111G>A	XP_016867582.1:p.Glu371Lys
XR_001744658.2:n.1743G>A
XR_001744659.2:n.1856G>A
XR_001744660.2:n.1788G>A
XR_001744661.2:n.1703G>A
XR_927461.3:n.1941G>A
NM_000181.4:c.1936G>A MANE Select	NP_000172.2:p.Glu646Lys
NM_001284290.2:c.1498G>A	NP_001271219.1:p.Glu500Lys
NM_001293104.2:c.1366G>A	NP_001280033.1:p.Glu456Lys
NM_001293105.2:c.1279G>A	NP_001280034.1:p.Glu427Lys
NR_120531.2:n.1881G>A