Canonical Allele Identifier: CA367637146

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425937A>T (hg19) ; chr7:g.65960950A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960950A>T , CM000669.2:g.65960950A>T	GRCh38
NC_000007.13:g.65425937A>T , CM000669.1:g.65425937A>T	GRCh37
NC_000007.12:g.65063372A>T	NCBI36
NG_016197.1:g.26365T>A
NG_051954.1:g.92852A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1903T>A MANE Select	ENSP00000302728.4:p.Tyr635Asn
ENST00000304895.8:c.1903T>A	ENSP00000302728.4:p.Tyr635Asn
ENST00000421103.5:c.1465T>A	ENSP00000391390.1:p.Tyr489Asn
ENST00000430730.5:c.*1170T>A	ENSP00000411859.1:n.*1170T>A
ENST00000447929.5:c.*1283T>A	ENSP00000411262.1:n.*1283T>A
ENST00000466883.5:n.2293T>A
NM_000181.3:c.1903T>A	NP_000172.2:p.Tyr635Asn
NM_001284290.1:c.1465T>A	NP_001271219.1:p.Tyr489Asn
NM_001293104.1:c.1333T>A	NP_001280033.1:p.Tyr445Asn
NM_001293105.1:c.1246T>A	NP_001280034.1:p.Tyr416Asn
NR_120531.1:n.1949T>A
XM_005250297.3:c.1750T>A	XP_005250354.1:p.Tyr584Asn
XM_011516113.1:c.1402T>A	XP_011514415.1:p.Tyr468Asn
XM_011516114.1:c.1231T>A	XP_011514416.1:p.Tyr411Asn
XM_005250297.4:c.1750T>A	XP_005250354.1:p.Tyr584Asn
XM_011516114.2:c.1231T>A	XP_011514416.1:p.Tyr411Asn
XM_017012091.1:c.1249T>A	XP_016867580.1:p.Tyr417Asn
XM_017012092.1:c.1180T>A	XP_016867581.1:p.Tyr394Asn
XM_017012093.2:c.1078T>A	XP_016867582.1:p.Tyr360Asn
XR_001744658.2:n.1710T>A
XR_001744659.2:n.1823T>A
XR_001744660.2:n.1755T>A
XR_001744661.2:n.1670T>A
XR_927461.3:n.1908T>A
NM_000181.4:c.1903T>A MANE Select	NP_000172.2:p.Tyr635Asn
NM_001284290.2:c.1465T>A	NP_001271219.1:p.Tyr489Asn
NM_001293104.2:c.1333T>A	NP_001280033.1:p.Tyr445Asn
NM_001293105.2:c.1246T>A	NP_001280034.1:p.Tyr416Asn
NR_120531.2:n.1848T>A