Canonical Allele Identifier: CA367655120

Gene: GUSB

Linked Data

• dbSNP Id: rs757874872
• MyVariant Identifiers: chr7:g.65447053C>G (hg19) ; chr7:g.65982066C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65982066C>G , CM000669.2:g.65982066C>G	GRCh38
NC_000007.13:g.65447053C>G , CM000669.1:g.65447053C>G	GRCh37
NC_000007.12:g.65084488C>G	NCBI36
NG_016197.1:g.5249G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.118G>C MANE Select	ENSP00000302728.4:p.Glu40Gln
ENST00000304895.8:c.118G>C	ENSP00000302728.4:p.Glu40Gln
ENST00000421103.5:c.118G>C	ENSP00000391390.1:p.Glu40Gln
ENST00000430730.5:c.118G>C	ENSP00000411859.1:p.Glu40Gln
ENST00000446111.1:c.118G>C	ENSP00000416793.1:p.Glu40Gln
ENST00000447929.5:c.118G>C	ENSP00000411262.1:p.Glu40Gln
ENST00000475316.5:n.23G>C
NM_000181.3:c.118G>C	NP_000172.2:p.Glu40Gln
NM_001284290.1:c.118G>C	NP_001271219.1:p.Glu40Gln
NM_001293104.1:c.-268G>C	NP_001280033.1:n.-268G>C
NM_001293105.1:c.-212G>C	NP_001280034.1:n.-212G>C
NR_120531.1:n.249G>C
XM_005250297.3:c.118G>C	XP_005250354.1:p.Glu40Gln
XM_011516113.1:c.-212G>C	XP_011514415.1:n.-212G>C
XR_927461.1:n.244G>C
XM_005250297.4:c.118G>C	XP_005250354.1:p.Glu40Gln
XM_011516114.2:c.-568G>C	XP_011514416.1:n.-568G>C
XM_017012091.1:c.-212G>C	XP_016867580.1:n.-212G>C
XM_017012092.1:c.-268G>C	XP_016867581.1:n.-268G>C
XM_017012093.2:c.-568G>C	XP_016867582.1:n.-568G>C
XR_001744658.2:n.163G>C
XR_001744659.2:n.163G>C
XR_001744660.2:n.163G>C
XR_001744661.2:n.163G>C
XR_927461.3:n.163G>C
NM_000181.4:c.118G>C MANE Select	NP_000172.2:p.Glu40Gln
NM_001284290.2:c.118G>C	NP_001271219.1:p.Glu40Gln
NM_001293104.2:c.-268G>C	NP_001280033.1:n.-268G>C
NM_001293105.2:c.-212G>C	NP_001280034.1:n.-212G>C
NR_120531.2:n.148G>C