Canonical Allele Identifier: CA367637368

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425988C>G (hg19) ; chr7:g.65961001C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961001C>G , CM000669.2:g.65961001C>G	GRCh38
NC_000007.13:g.65425988C>G , CM000669.1:g.65425988C>G	GRCh37
NC_000007.12:g.65063423C>G	NCBI36
NG_016197.1:g.26314G>C
NG_051954.1:g.92903C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1852G>C MANE Select	ENSP00000302728.4:p.Ala618Pro
ENST00000304895.8:c.1852G>C	ENSP00000302728.4:p.Ala618Pro
ENST00000421103.5:c.1414G>C	ENSP00000391390.1:p.Ala472Pro
ENST00000430730.5:c.*1119G>C	ENSP00000411859.1:n.*1119G>C
ENST00000447929.5:c.*1232G>C	ENSP00000411262.1:n.*1232G>C
ENST00000466883.5:n.2242G>C
NM_000181.3:c.1852G>C	NP_000172.2:p.Ala618Pro
NM_001284290.1:c.1414G>C	NP_001271219.1:p.Ala472Pro
NM_001293104.1:c.1282G>C	NP_001280033.1:p.Ala428Pro
NM_001293105.1:c.1195G>C	NP_001280034.1:p.Ala399Pro
NR_120531.1:n.1898G>C
XM_005250297.3:c.1699G>C	XP_005250354.1:p.Ala567Pro
XM_011516113.1:c.1351G>C	XP_011514415.1:p.Ala451Pro
XM_011516114.1:c.1180G>C	XP_011514416.1:p.Ala394Pro
XM_005250297.4:c.1699G>C	XP_005250354.1:p.Ala567Pro
XM_011516114.2:c.1180G>C	XP_011514416.1:p.Ala394Pro
XM_017012091.1:c.1198G>C	XP_016867580.1:p.Ala400Pro
XM_017012092.1:c.1129G>C	XP_016867581.1:p.Ala377Pro
XM_017012093.2:c.1027G>C	XP_016867582.1:p.Ala343Pro
XR_001744658.2:n.1659G>C
XR_001744659.2:n.1772G>C
XR_001744660.2:n.1704G>C
XR_001744661.2:n.1619G>C
XR_927461.3:n.1857G>C
NM_000181.4:c.1852G>C MANE Select	NP_000172.2:p.Ala618Pro
NM_001284290.2:c.1414G>C	NP_001271219.1:p.Ala472Pro
NM_001293104.2:c.1282G>C	NP_001280033.1:p.Ala428Pro
NM_001293105.2:c.1195G>C	NP_001280034.1:p.Ala399Pro
NR_120531.2:n.1797G>C