Canonical Allele Identifier: CA367637333

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425981A>T (hg19) ; chr7:g.65960994A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960994A>T , CM000669.2:g.65960994A>T	GRCh38
NC_000007.13:g.65425981A>T , CM000669.1:g.65425981A>T	GRCh37
NC_000007.12:g.65063416A>T	NCBI36
NG_016197.1:g.26321T>A
NG_051954.1:g.92896A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1859T>A MANE Select	ENSP00000302728.4:p.Phe620Tyr
ENST00000304895.8:c.1859T>A	ENSP00000302728.4:p.Phe620Tyr
ENST00000421103.5:c.1421T>A	ENSP00000391390.1:p.Phe474Tyr
ENST00000430730.5:c.*1126T>A	ENSP00000411859.1:n.*1126T>A
ENST00000447929.5:c.*1239T>A	ENSP00000411262.1:n.*1239T>A
ENST00000466883.5:n.2249T>A
NM_000181.3:c.1859T>A	NP_000172.2:p.Phe620Tyr
NM_001284290.1:c.1421T>A	NP_001271219.1:p.Phe474Tyr
NM_001293104.1:c.1289T>A	NP_001280033.1:p.Phe430Tyr
NM_001293105.1:c.1202T>A	NP_001280034.1:p.Phe401Tyr
NR_120531.1:n.1905T>A
XM_005250297.3:c.1706T>A	XP_005250354.1:p.Phe569Tyr
XM_011516113.1:c.1358T>A	XP_011514415.1:p.Phe453Tyr
XM_011516114.1:c.1187T>A	XP_011514416.1:p.Phe396Tyr
XM_005250297.4:c.1706T>A	XP_005250354.1:p.Phe569Tyr
XM_011516114.2:c.1187T>A	XP_011514416.1:p.Phe396Tyr
XM_017012091.1:c.1205T>A	XP_016867580.1:p.Phe402Tyr
XM_017012092.1:c.1136T>A	XP_016867581.1:p.Phe379Tyr
XM_017012093.2:c.1034T>A	XP_016867582.1:p.Phe345Tyr
XR_001744658.2:n.1666T>A
XR_001744659.2:n.1779T>A
XR_001744660.2:n.1711T>A
XR_001744661.2:n.1626T>A
XR_927461.3:n.1864T>A
NM_000181.4:c.1859T>A MANE Select	NP_000172.2:p.Phe620Tyr
NM_001284290.2:c.1421T>A	NP_001271219.1:p.Phe474Tyr
NM_001293104.2:c.1289T>A	NP_001280033.1:p.Phe430Tyr
NM_001293105.2:c.1202T>A	NP_001280034.1:p.Phe401Tyr
NR_120531.2:n.1804T>A