Canonical Allele Identifier: CA367637082

Gene: GUSB

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1916T>C MANE Select	ENSP00000302728.4:p.Val639Ala
ENST00000304895.8:c.1916T>C	ENSP00000302728.4:p.Val639Ala
ENST00000421103.5:c.1478T>C	ENSP00000391390.1:p.Val493Ala
ENST00000430730.5:c.*1183T>C	ENSP00000411859.1:n.*1183T>C
ENST00000447929.5:c.*1296T>C	ENSP00000411262.1:n.*1296T>C
ENST00000466883.5:n.2306T>C
NM_000181.3:c.1916T>C	NP_000172.2:p.Val639Ala
NM_001284290.1:c.1478T>C	NP_001271219.1:p.Val493Ala
NM_001293104.1:c.1346T>C	NP_001280033.1:p.Val449Ala
NM_001293105.1:c.1259T>C	NP_001280034.1:p.Val420Ala
NR_120531.1:n.1962T>C
XM_005250297.3:c.1763T>C	XP_005250354.1:p.Val588Ala
XM_011516113.1:c.1415T>C	XP_011514415.1:p.Val472Ala
XM_011516114.1:c.1244T>C	XP_011514416.1:p.Val415Ala
XM_005250297.4:c.1763T>C	XP_005250354.1:p.Val588Ala
XM_011516114.2:c.1244T>C	XP_011514416.1:p.Val415Ala
XM_017012091.1:c.1262T>C	XP_016867580.1:p.Val421Ala
XM_017012092.1:c.1193T>C	XP_016867581.1:p.Val398Ala
XM_017012093.2:c.1091T>C	XP_016867582.1:p.Val364Ala
XR_001744658.2:n.1723T>C
XR_001744659.2:n.1836T>C
XR_001744660.2:n.1768T>C
XR_001744661.2:n.1683T>C
XR_927461.3:n.1921T>C
NM_000181.4:c.1916T>C MANE Select	NP_000172.2:p.Val639Ala
NM_001284290.2:c.1478T>C	NP_001271219.1:p.Val493Ala
NM_001293104.2:c.1346T>C	NP_001280033.1:p.Val449Ala
NM_001293105.2:c.1259T>C	NP_001280034.1:p.Val420Ala
NR_120531.2:n.1861T>C