Canonical Allele Identifier: CA367640134

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432807C>G (hg19) ; chr7:g.65967820C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967820C>G , CM000669.2:g.65967820C>G	GRCh38
NC_000007.13:g.65432807C>G , CM000669.1:g.65432807C>G	GRCh37
NC_000007.12:g.65070242C>G	NCBI36
NG_016197.1:g.19495G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1564G>C MANE Select	ENSP00000302728.4:p.Ala522Pro
ENST00000304895.8:c.1564G>C	ENSP00000302728.4:p.Ala522Pro
ENST00000421103.5:c.1126G>C	ENSP00000391390.1:p.Ala376Pro
ENST00000430730.5:c.*831G>C	ENSP00000411859.1:n.*831G>C
ENST00000447929.5:c.*944G>C	ENSP00000411262.1:n.*944G>C
ENST00000461622.1:n.89G>C
ENST00000462371.1:n.602G>C
ENST00000466883.5:n.1954G>C
NM_000181.3:c.1564G>C	NP_000172.2:p.Ala522Pro
NM_001284290.1:c.1126G>C	NP_001271219.1:p.Ala376Pro
NM_001293104.1:c.994G>C	NP_001280033.1:p.Ala332Pro
NM_001293105.1:c.907G>C	NP_001280034.1:p.Ala303Pro
NR_120531.1:n.1610G>C
XM_005250297.3:c.1411G>C	XP_005250354.1:p.Ala471Pro
XM_011516113.1:c.1063G>C	XP_011514415.1:p.Ala355Pro
XM_011516114.1:c.892G>C	XP_011514416.1:p.Ala298Pro
XR_927461.1:n.1650G>C
XM_005250297.4:c.1411G>C	XP_005250354.1:p.Ala471Pro
XM_011516114.2:c.892G>C	XP_011514416.1:p.Ala298Pro
XM_017012091.1:c.910G>C	XP_016867580.1:p.Ala304Pro
XM_017012092.1:c.841G>C	XP_016867581.1:p.Ala281Pro
XM_017012093.2:c.739G>C	XP_016867582.1:p.Ala247Pro
XR_001744658.2:n.1371G>C
XR_001744659.2:n.1484G>C
XR_001744660.2:n.1416G>C
XR_001744661.2:n.1331G>C
XR_927461.3:n.1569G>C
NM_000181.4:c.1564G>C MANE Select	NP_000172.2:p.Ala522Pro
NM_001284290.2:c.1126G>C	NP_001271219.1:p.Ala376Pro
NM_001293104.2:c.994G>C	NP_001280033.1:p.Ala332Pro
NM_001293105.2:c.907G>C	NP_001280034.1:p.Ala303Pro
NR_120531.2:n.1509G>C