Canonical Allele Identifier: CA367637138

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425936T>C (hg19) ; chr7:g.65960949T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960949T>C , CM000669.2:g.65960949T>C	GRCh38
NC_000007.13:g.65425936T>C , CM000669.1:g.65425936T>C	GRCh37
NC_000007.12:g.65063371T>C	NCBI36
NG_016197.1:g.26366A>G
NG_051954.1:g.92851T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1904A>G MANE Select	ENSP00000302728.4:p.Tyr635Cys
ENST00000304895.8:c.1904A>G	ENSP00000302728.4:p.Tyr635Cys
ENST00000421103.5:c.1466A>G	ENSP00000391390.1:p.Tyr489Cys
ENST00000430730.5:c.*1171A>G	ENSP00000411859.1:n.*1171A>G
ENST00000447929.5:c.*1284A>G	ENSP00000411262.1:n.*1284A>G
ENST00000466883.5:n.2294A>G
NM_000181.3:c.1904A>G	NP_000172.2:p.Tyr635Cys
NM_001284290.1:c.1466A>G	NP_001271219.1:p.Tyr489Cys
NM_001293104.1:c.1334A>G	NP_001280033.1:p.Tyr445Cys
NM_001293105.1:c.1247A>G	NP_001280034.1:p.Tyr416Cys
NR_120531.1:n.1950A>G
XM_005250297.3:c.1751A>G	XP_005250354.1:p.Tyr584Cys
XM_011516113.1:c.1403A>G	XP_011514415.1:p.Tyr468Cys
XM_011516114.1:c.1232A>G	XP_011514416.1:p.Tyr411Cys
XM_005250297.4:c.1751A>G	XP_005250354.1:p.Tyr584Cys
XM_011516114.2:c.1232A>G	XP_011514416.1:p.Tyr411Cys
XM_017012091.1:c.1250A>G	XP_016867580.1:p.Tyr417Cys
XM_017012092.1:c.1181A>G	XP_016867581.1:p.Tyr394Cys
XM_017012093.2:c.1079A>G	XP_016867582.1:p.Tyr360Cys
XR_001744658.2:n.1711A>G
XR_001744659.2:n.1824A>G
XR_001744660.2:n.1756A>G
XR_001744661.2:n.1671A>G
XR_927461.3:n.1909A>G
NM_000181.4:c.1904A>G MANE Select	NP_000172.2:p.Tyr635Cys
NM_001284290.2:c.1466A>G	NP_001271219.1:p.Tyr489Cys
NM_001293104.2:c.1334A>G	NP_001280033.1:p.Tyr445Cys
NM_001293105.2:c.1247A>G	NP_001280034.1:p.Tyr416Cys
NR_120531.2:n.1849A>G