Canonical Allele Identifier: CA367637473

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65426006G>T (hg19) ; chr7:g.65961019G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961019G>T , CM000669.2:g.65961019G>T	GRCh38
NC_000007.13:g.65426006G>T , CM000669.1:g.65426006G>T	GRCh37
NC_000007.12:g.65063441G>T	NCBI36
NG_016197.1:g.26296C>A
NG_051954.1:g.92921G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1834C>A MANE Select	ENSP00000302728.4:p.Gln612Lys
ENST00000304895.8:c.1834C>A	ENSP00000302728.4:p.Gln612Lys
ENST00000421103.5:c.1396C>A	ENSP00000391390.1:p.Gln466Lys
ENST00000430730.5:c.*1101C>A	ENSP00000411859.1:n.*1101C>A
ENST00000447929.5:c.*1214C>A	ENSP00000411262.1:n.*1214C>A
ENST00000466883.5:n.2224C>A
NM_000181.3:c.1834C>A	NP_000172.2:p.Gln612Lys
NM_001284290.1:c.1396C>A	NP_001271219.1:p.Gln466Lys
NM_001293104.1:c.1264C>A	NP_001280033.1:p.Gln422Lys
NM_001293105.1:c.1177C>A	NP_001280034.1:p.Gln393Lys
NR_120531.1:n.1880C>A
XM_005250297.3:c.1681C>A	XP_005250354.1:p.Gln561Lys
XM_011516113.1:c.1333C>A	XP_011514415.1:p.Gln445Lys
XM_011516114.1:c.1162C>A	XP_011514416.1:p.Gln388Lys
XM_005250297.4:c.1681C>A	XP_005250354.1:p.Gln561Lys
XM_011516114.2:c.1162C>A	XP_011514416.1:p.Gln388Lys
XM_017012091.1:c.1180C>A	XP_016867580.1:p.Gln394Lys
XM_017012092.1:c.1111C>A	XP_016867581.1:p.Gln371Lys
XM_017012093.2:c.1009C>A	XP_016867582.1:p.Gln337Lys
XR_001744658.2:n.1641C>A
XR_001744659.2:n.1754C>A
XR_001744660.2:n.1686C>A
XR_001744661.2:n.1601C>A
XR_927461.3:n.1839C>A
NM_000181.4:c.1834C>A MANE Select	NP_000172.2:p.Gln612Lys
NM_001284290.2:c.1396C>A	NP_001271219.1:p.Gln466Lys
NM_001293104.2:c.1264C>A	NP_001280033.1:p.Gln422Lys
NM_001293105.2:c.1177C>A	NP_001280034.1:p.Gln393Lys
NR_120531.2:n.1779C>A