Canonical Allele Identifier: CA367637199

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425949T>A (hg19) ; chr7:g.65960962T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960962T>A , CM000669.2:g.65960962T>A	GRCh38
NC_000007.13:g.65425949T>A , CM000669.1:g.65425949T>A	GRCh37
NC_000007.12:g.65063384T>A	NCBI36
NG_016197.1:g.26353A>T
NG_051954.1:g.92864T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1891A>T MANE Select	ENSP00000302728.4:p.Asn631Tyr
ENST00000304895.8:c.1891A>T	ENSP00000302728.4:p.Asn631Tyr
ENST00000421103.5:c.1453A>T	ENSP00000391390.1:p.Asn485Tyr
ENST00000430730.5:c.*1158A>T	ENSP00000411859.1:n.*1158A>T
ENST00000447929.5:c.*1271A>T	ENSP00000411262.1:n.*1271A>T
ENST00000466883.5:n.2281A>T
NM_000181.3:c.1891A>T	NP_000172.2:p.Asn631Tyr
NM_001284290.1:c.1453A>T	NP_001271219.1:p.Asn485Tyr
NM_001293104.1:c.1321A>T	NP_001280033.1:p.Asn441Tyr
NM_001293105.1:c.1234A>T	NP_001280034.1:p.Asn412Tyr
NR_120531.1:n.1937A>T
XM_005250297.3:c.1738A>T	XP_005250354.1:p.Asn580Tyr
XM_011516113.1:c.1390A>T	XP_011514415.1:p.Asn464Tyr
XM_011516114.1:c.1219A>T	XP_011514416.1:p.Asn407Tyr
XM_005250297.4:c.1738A>T	XP_005250354.1:p.Asn580Tyr
XM_011516114.2:c.1219A>T	XP_011514416.1:p.Asn407Tyr
XM_017012091.1:c.1237A>T	XP_016867580.1:p.Asn413Tyr
XM_017012092.1:c.1168A>T	XP_016867581.1:p.Asn390Tyr
XM_017012093.2:c.1066A>T	XP_016867582.1:p.Asn356Tyr
XR_001744658.2:n.1698A>T
XR_001744659.2:n.1811A>T
XR_001744660.2:n.1743A>T
XR_001744661.2:n.1658A>T
XR_927461.3:n.1896A>T
NM_000181.4:c.1891A>T MANE Select	NP_000172.2:p.Asn631Tyr
NM_001284290.2:c.1453A>T	NP_001271219.1:p.Asn485Tyr
NM_001293104.2:c.1321A>T	NP_001280033.1:p.Asn441Tyr
NM_001293105.2:c.1234A>T	NP_001280034.1:p.Asn412Tyr
NR_120531.2:n.1836A>T