Canonical Allele Identifier: CA367640006

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432782T>G (hg19) ; chr7:g.65967795T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967795T>G , CM000669.2:g.65967795T>G	GRCh38
NC_000007.13:g.65432782T>G , CM000669.1:g.65432782T>G	GRCh37
NC_000007.12:g.65070217T>G	NCBI36
NG_016197.1:g.19520A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1589A>C MANE Select	ENSP00000302728.4:p.Lys530Thr
ENST00000304895.8:c.1589A>C	ENSP00000302728.4:p.Lys530Thr
ENST00000421103.5:c.1151A>C	ENSP00000391390.1:p.Lys384Thr
ENST00000430730.5:c.*856A>C	ENSP00000411859.1:n.*856A>C
ENST00000447929.5:c.*969A>C	ENSP00000411262.1:n.*969A>C
ENST00000461622.1:n.114A>C
ENST00000462371.1:n.627A>C
ENST00000466883.5:n.1979A>C
NM_000181.3:c.1589A>C	NP_000172.2:p.Lys530Thr
NM_001284290.1:c.1151A>C	NP_001271219.1:p.Lys384Thr
NM_001293104.1:c.1019A>C	NP_001280033.1:p.Lys340Thr
NM_001293105.1:c.932A>C	NP_001280034.1:p.Lys311Thr
NR_120531.1:n.1635A>C
XM_005250297.3:c.1436A>C	XP_005250354.1:p.Lys479Thr
XM_011516113.1:c.1088A>C	XP_011514415.1:p.Lys363Thr
XM_011516114.1:c.917A>C	XP_011514416.1:p.Lys306Thr
XR_927461.1:n.1675A>C
XM_005250297.4:c.1436A>C	XP_005250354.1:p.Lys479Thr
XM_011516114.2:c.917A>C	XP_011514416.1:p.Lys306Thr
XM_017012091.1:c.935A>C	XP_016867580.1:p.Lys312Thr
XM_017012092.1:c.866A>C	XP_016867581.1:p.Lys289Thr
XM_017012093.2:c.764A>C	XP_016867582.1:p.Lys255Thr
XR_001744658.2:n.1396A>C
XR_001744659.2:n.1509A>C
XR_001744660.2:n.1441A>C
XR_001744661.2:n.1356A>C
XR_927461.3:n.1594A>C
NM_000181.4:c.1589A>C MANE Select	NP_000172.2:p.Lys530Thr
NM_001284290.2:c.1151A>C	NP_001271219.1:p.Lys384Thr
NM_001293104.2:c.1019A>C	NP_001280033.1:p.Lys340Thr
NM_001293105.2:c.932A>C	NP_001280034.1:p.Lys311Thr
NR_120531.2:n.1534A>C