Canonical Allele Identifier: CA367637142

Gene: GUSB

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1903T>G MANE Select	ENSP00000302728.4:p.Tyr635Asp
ENST00000304895.8:c.1903T>G	ENSP00000302728.4:p.Tyr635Asp
ENST00000421103.5:c.1465T>G	ENSP00000391390.1:p.Tyr489Asp
ENST00000430730.5:c.*1170T>G	ENSP00000411859.1:n.*1170T>G
ENST00000447929.5:c.*1283T>G	ENSP00000411262.1:n.*1283T>G
ENST00000466883.5:n.2293T>G
NM_000181.3:c.1903T>G	NP_000172.2:p.Tyr635Asp
NM_001284290.1:c.1465T>G	NP_001271219.1:p.Tyr489Asp
NM_001293104.1:c.1333T>G	NP_001280033.1:p.Tyr445Asp
NM_001293105.1:c.1246T>G	NP_001280034.1:p.Tyr416Asp
NR_120531.1:n.1949T>G
XM_005250297.3:c.1750T>G	XP_005250354.1:p.Tyr584Asp
XM_011516113.1:c.1402T>G	XP_011514415.1:p.Tyr468Asp
XM_011516114.1:c.1231T>G	XP_011514416.1:p.Tyr411Asp
XM_005250297.4:c.1750T>G	XP_005250354.1:p.Tyr584Asp
XM_011516114.2:c.1231T>G	XP_011514416.1:p.Tyr411Asp
XM_017012091.1:c.1249T>G	XP_016867580.1:p.Tyr417Asp
XM_017012092.1:c.1180T>G	XP_016867581.1:p.Tyr394Asp
XM_017012093.2:c.1078T>G	XP_016867582.1:p.Tyr360Asp
XR_001744658.2:n.1710T>G
XR_001744659.2:n.1823T>G
XR_001744660.2:n.1755T>G
XR_001744661.2:n.1670T>G
XR_927461.3:n.1908T>G
NM_000181.4:c.1903T>G MANE Select	NP_000172.2:p.Tyr635Asp
NM_001284290.2:c.1465T>G	NP_001271219.1:p.Tyr489Asp
NM_001293104.2:c.1333T>G	NP_001280033.1:p.Tyr445Asp
NM_001293105.2:c.1246T>G	NP_001280034.1:p.Tyr416Asp
NR_120531.2:n.1848T>G