Canonical Allele Identifier: CA10607051

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65975025T>G , CM000669.2:g.65975025T>G	GRCh38
NC_000007.13:g.65440012T>G , CM000669.1:g.65440012T>G	GRCh37
NC_000007.12:g.65077447T>G	NCBI36
NG_016197.1:g.12290A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.959A>C MANE Select	ENSP00000302728.4:p.Tyr320Ser
ENST00000304895.8:c.959A>C	ENSP00000302728.4:p.Tyr320Ser
ENST00000421103.5:c.521A>C	ENSP00000391390.1:p.Tyr174Ser
ENST00000430730.5:c.*226A>C	ENSP00000411859.1:n.*226A>C
ENST00000447929.5:c.*339A>C	ENSP00000411262.1:n.*339A>C
ENST00000465785.5:n.299-321A>C
ENST00000466883.5:n.1136A>C
ENST00000475316.5:n.304-321A>C
ENST00000476486.5:n.763A>C
ENST00000479038.1:n.189-321A>C
NM_000181.3:c.959A>C	NP_000172.2:p.Tyr320Ser
NM_001284290.1:c.521A>C	NP_001271219.1:p.Tyr174Ser
NM_001293104.1:c.389A>C	NP_001280033.1:p.Tyr130Ser
NM_001293105.1:c.302A>C	NP_001280034.1:p.Tyr101Ser
NR_120531.1:n.1090A>C
XM_005250297.3:c.913-321A>C	XP_005250354.1:n.913-321A>C
XM_011516113.1:c.458A>C	XP_011514415.1:p.Tyr153Ser
XM_011516114.1:c.287A>C	XP_011514416.1:p.Tyr96Ser
XR_927461.1:n.1085A>C
XM_005250297.4:c.913-321A>C	XP_005250354.1:n.913-321A>C
XM_011516114.2:c.287A>C	XP_011514416.1:p.Tyr96Ser
XM_017012091.1:c.412-321A>C	XP_016867580.1:n.412-321A>C
XM_017012092.1:c.343-321A>C	XP_016867581.1:n.343-321A>C
XM_017012093.2:c.241-321A>C	XP_016867582.1:n.241-321A>C
XR_001744658.2:n.958-321A>C
XR_001744659.2:n.1004A>C
XR_001744660.2:n.958-321A>C
XR_001744661.2:n.958-321A>C
XR_927461.3:n.1004A>C
NM_000181.4:c.959A>C MANE Select	NP_000172.2:p.Tyr320Ser
NM_001284290.2:c.521A>C	NP_001271219.1:p.Tyr174Ser
NM_001293104.2:c.389A>C	NP_001280033.1:p.Tyr130Ser
NM_001293105.2:c.302A>C	NP_001280034.1:p.Tyr101Ser
NR_120531.2:n.989A>C