Canonical Allele Identifier: CA367640303

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432843C>G (hg19) ; chr7:g.65967856C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967856C>G , CM000669.2:g.65967856C>G	GRCh38
NC_000007.13:g.65432843C>G , CM000669.1:g.65432843C>G	GRCh37
NC_000007.12:g.65070278C>G	NCBI36
NG_016197.1:g.19459G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1528G>C MANE Select	ENSP00000302728.4:p.Asp510His
ENST00000304895.8:c.1528G>C	ENSP00000302728.4:p.Asp510His
ENST00000421103.5:c.1090G>C	ENSP00000391390.1:p.Asp364His
ENST00000430730.5:c.*795G>C	ENSP00000411859.1:n.*795G>C
ENST00000447929.5:c.*908G>C	ENSP00000411262.1:n.*908G>C
ENST00000461622.1:n.53G>C
ENST00000462371.1:n.566G>C
ENST00000466883.5:n.1918G>C
NM_000181.3:c.1528G>C	NP_000172.2:p.Asp510His
NM_001284290.1:c.1090G>C	NP_001271219.1:p.Asp364His
NM_001293104.1:c.958G>C	NP_001280033.1:p.Asp320His
NM_001293105.1:c.871G>C	NP_001280034.1:p.Asp291His
NR_120531.1:n.1574G>C
XM_005250297.3:c.1375G>C	XP_005250354.1:p.Asp459His
XM_011516113.1:c.1027G>C	XP_011514415.1:p.Asp343His
XM_011516114.1:c.856G>C	XP_011514416.1:p.Asp286His
XR_927461.1:n.1614G>C
XM_005250297.4:c.1375G>C	XP_005250354.1:p.Asp459His
XM_011516114.2:c.856G>C	XP_011514416.1:p.Asp286His
XM_017012091.1:c.874G>C	XP_016867580.1:p.Asp292His
XM_017012092.1:c.805G>C	XP_016867581.1:p.Asp269His
XM_017012093.2:c.703G>C	XP_016867582.1:p.Asp235His
XR_001744658.2:n.1335G>C
XR_001744659.2:n.1448G>C
XR_001744660.2:n.1380G>C
XR_001744661.2:n.1295G>C
XR_927461.3:n.1533G>C
NM_000181.4:c.1528G>C MANE Select	NP_000172.2:p.Asp510His
NM_001284290.2:c.1090G>C	NP_001271219.1:p.Asp364His
NM_001293104.2:c.958G>C	NP_001280033.1:p.Asp320His
NM_001293105.2:c.871G>C	NP_001280034.1:p.Asp291His
NR_120531.2:n.1473G>C