Canonical Allele Identifier: CA367637099

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425928A>C (hg19) ; chr7:g.65960941A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960941A>C , CM000669.2:g.65960941A>C	GRCh38
NC_000007.13:g.65425928A>C , CM000669.1:g.65425928A>C	GRCh37
NC_000007.12:g.65063363A>C	NCBI36
NG_016197.1:g.26374T>G
NG_051954.1:g.92843A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1912T>G MANE Select	ENSP00000302728.4:p.Ser638Ala
ENST00000304895.8:c.1912T>G	ENSP00000302728.4:p.Ser638Ala
ENST00000421103.5:c.1474T>G	ENSP00000391390.1:p.Ser492Ala
ENST00000430730.5:c.*1179T>G	ENSP00000411859.1:n.*1179T>G
ENST00000447929.5:c.*1292T>G	ENSP00000411262.1:n.*1292T>G
ENST00000466883.5:n.2302T>G
NM_000181.3:c.1912T>G	NP_000172.2:p.Ser638Ala
NM_001284290.1:c.1474T>G	NP_001271219.1:p.Ser492Ala
NM_001293104.1:c.1342T>G	NP_001280033.1:p.Ser448Ala
NM_001293105.1:c.1255T>G	NP_001280034.1:p.Ser419Ala
NR_120531.1:n.1958T>G
XM_005250297.3:c.1759T>G	XP_005250354.1:p.Ser587Ala
XM_011516113.1:c.1411T>G	XP_011514415.1:p.Ser471Ala
XM_011516114.1:c.1240T>G	XP_011514416.1:p.Ser414Ala
XM_005250297.4:c.1759T>G	XP_005250354.1:p.Ser587Ala
XM_011516114.2:c.1240T>G	XP_011514416.1:p.Ser414Ala
XM_017012091.1:c.1258T>G	XP_016867580.1:p.Ser420Ala
XM_017012092.1:c.1189T>G	XP_016867581.1:p.Ser397Ala
XM_017012093.2:c.1087T>G	XP_016867582.1:p.Ser363Ala
XR_001744658.2:n.1719T>G
XR_001744659.2:n.1832T>G
XR_001744660.2:n.1764T>G
XR_001744661.2:n.1679T>G
XR_927461.3:n.1917T>G
NM_000181.4:c.1912T>G MANE Select	NP_000172.2:p.Ser638Ala
NM_001284290.2:c.1474T>G	NP_001271219.1:p.Ser492Ala
NM_001293104.2:c.1342T>G	NP_001280033.1:p.Ser448Ala
NM_001293105.2:c.1255T>G	NP_001280034.1:p.Ser419Ala
NR_120531.2:n.1857T>G