Canonical Allele Identifier: CA367637081

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425924A>C (hg19) ; chr7:g.65960937A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960937A>C , CM000669.2:g.65960937A>C	GRCh38
NC_000007.13:g.65425924A>C , CM000669.1:g.65425924A>C	GRCh37
NC_000007.12:g.65063359A>C	NCBI36
NG_016197.1:g.26378T>G
NG_051954.1:g.92839A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1916T>G MANE Select	ENSP00000302728.4:p.Val639Gly
ENST00000304895.8:c.1916T>G	ENSP00000302728.4:p.Val639Gly
ENST00000421103.5:c.1478T>G	ENSP00000391390.1:p.Val493Gly
ENST00000430730.5:c.*1183T>G	ENSP00000411859.1:n.*1183T>G
ENST00000447929.5:c.*1296T>G	ENSP00000411262.1:n.*1296T>G
ENST00000466883.5:n.2306T>G
NM_000181.3:c.1916T>G	NP_000172.2:p.Val639Gly
NM_001284290.1:c.1478T>G	NP_001271219.1:p.Val493Gly
NM_001293104.1:c.1346T>G	NP_001280033.1:p.Val449Gly
NM_001293105.1:c.1259T>G	NP_001280034.1:p.Val420Gly
NR_120531.1:n.1962T>G
XM_005250297.3:c.1763T>G	XP_005250354.1:p.Val588Gly
XM_011516113.1:c.1415T>G	XP_011514415.1:p.Val472Gly
XM_011516114.1:c.1244T>G	XP_011514416.1:p.Val415Gly
XM_005250297.4:c.1763T>G	XP_005250354.1:p.Val588Gly
XM_011516114.2:c.1244T>G	XP_011514416.1:p.Val415Gly
XM_017012091.1:c.1262T>G	XP_016867580.1:p.Val421Gly
XM_017012092.1:c.1193T>G	XP_016867581.1:p.Val398Gly
XM_017012093.2:c.1091T>G	XP_016867582.1:p.Val364Gly
XR_001744658.2:n.1723T>G
XR_001744659.2:n.1836T>G
XR_001744660.2:n.1768T>G
XR_001744661.2:n.1683T>G
XR_927461.3:n.1921T>G
NM_000181.4:c.1916T>G MANE Select	NP_000172.2:p.Val639Gly
NM_001284290.2:c.1478T>G	NP_001271219.1:p.Val493Gly
NM_001293104.2:c.1346T>G	NP_001280033.1:p.Val449Gly
NM_001293105.2:c.1259T>G	NP_001280034.1:p.Val420Gly
NR_120531.2:n.1861T>G