Canonical Allele Identifier: CA367639731

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432726A>C (hg19) ; chr7:g.65967739A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967739A>C , CM000669.2:g.65967739A>C	GRCh38
NC_000007.13:g.65432726A>C , CM000669.1:g.65432726A>C	GRCh37
NC_000007.12:g.65070161A>C	NCBI36
NG_016197.1:g.19576T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1645T>G MANE Select	ENSP00000302728.4:p.Phe549Val
ENST00000304895.8:c.1645T>G	ENSP00000302728.4:p.Phe549Val
ENST00000421103.5:c.1207T>G	ENSP00000391390.1:p.Phe403Val
ENST00000430730.5:c.*912T>G	ENSP00000411859.1:n.*912T>G
ENST00000447929.5:c.*1025T>G	ENSP00000411262.1:n.*1025T>G
ENST00000461622.1:n.170T>G
ENST00000462371.1:n.683T>G
ENST00000466883.5:n.2035T>G
NM_000181.3:c.1645T>G	NP_000172.2:p.Phe549Val
NM_001284290.1:c.1207T>G	NP_001271219.1:p.Phe403Val
NM_001293104.1:c.1075T>G	NP_001280033.1:p.Phe359Val
NM_001293105.1:c.988T>G	NP_001280034.1:p.Phe330Val
NR_120531.1:n.1691T>G
XM_005250297.3:c.1492T>G	XP_005250354.1:p.Phe498Val
XM_011516113.1:c.1144T>G	XP_011514415.1:p.Phe382Val
XM_011516114.1:c.973T>G	XP_011514416.1:p.Phe325Val
XR_927461.1:n.1731T>G
XM_005250297.4:c.1492T>G	XP_005250354.1:p.Phe498Val
XM_011516114.2:c.973T>G	XP_011514416.1:p.Phe325Val
XM_017012091.1:c.991T>G	XP_016867580.1:p.Phe331Val
XM_017012092.1:c.922T>G	XP_016867581.1:p.Phe308Val
XM_017012093.2:c.820T>G	XP_016867582.1:p.Phe274Val
XR_001744658.2:n.1452T>G
XR_001744659.2:n.1565T>G
XR_001744660.2:n.1497T>G
XR_001744661.2:n.1412T>G
XR_927461.3:n.1650T>G
NM_000181.4:c.1645T>G MANE Select	NP_000172.2:p.Phe549Val
NM_001284290.2:c.1207T>G	NP_001271219.1:p.Phe403Val
NM_001293104.2:c.1075T>G	NP_001280033.1:p.Phe359Val
NM_001293105.2:c.988T>G	NP_001280034.1:p.Phe330Val
NR_120531.2:n.1590T>G