Canonical Allele Identifier: CA339853

Gene: GUSB

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65974934C>G , CM000669.2:g.65974934C>G	GRCh38
NC_000007.13:g.65439921C>G , CM000669.1:g.65439921C>G	GRCh37
NC_000007.12:g.65077356C>G	NCBI36
NG_016197.1:g.12381G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1050G>C MANE Select	ENSP00000302728.4:p.Lys350Asn
ENST00000304895.8:c.1050G>C	ENSP00000302728.4:p.Lys350Asn
ENST00000421103.5:c.612G>C	ENSP00000391390.1:p.Lys204Asn
ENST00000430730.5:c.*317G>C	ENSP00000411859.1:n.*317G>C
ENST00000447929.5:c.*430G>C	ENSP00000411262.1:n.*430G>C
ENST00000465785.5:n.299-230G>C
ENST00000466883.5:n.1227G>C
ENST00000475316.5:n.304-230G>C
ENST00000479038.1:n.189-230G>C
ENST00000489482.1:n.73G>C
NM_000181.3:c.1050G>C	NP_000172.2:p.Lys350Asn
NM_001284290.1:c.612G>C	NP_001271219.1:p.Lys204Asn
NM_001293104.1:c.480G>C	NP_001280033.1:p.Lys160Asn
NM_001293105.1:c.393G>C	NP_001280034.1:p.Lys131Asn
NR_120531.1:n.1181G>C
XM_005250297.3:c.913-230G>C	XP_005250354.1:n.913-230G>C
XM_011516113.1:c.549G>C	XP_011514415.1:p.Lys183Asn
XM_011516114.1:c.378G>C	XP_011514416.1:p.Lys126Asn
XR_927461.1:n.1176G>C
XM_005250297.4:c.913-230G>C	XP_005250354.1:n.913-230G>C
XM_011516114.2:c.378G>C	XP_011514416.1:p.Lys126Asn
XM_017012091.1:c.412-230G>C	XP_016867580.1:n.412-230G>C
XM_017012092.1:c.343-230G>C	XP_016867581.1:n.343-230G>C
XM_017012093.2:c.241-230G>C	XP_016867582.1:n.241-230G>C
XR_001744658.2:n.958-230G>C
XR_001744659.2:n.1095G>C
XR_001744660.2:n.958-230G>C
XR_001744661.2:n.958-230G>C
XR_927461.3:n.1095G>C
NM_000181.4:c.1050G>C MANE Select	NP_000172.2:p.Lys350Asn
NM_001284290.2:c.612G>C	NP_001271219.1:p.Lys204Asn
NM_001293104.2:c.480G>C	NP_001280033.1:p.Lys160Asn
NM_001293105.2:c.393G>C	NP_001280034.1:p.Lys131Asn
NR_120531.2:n.1080G>C