Canonical Allele Identifier: CA367640235

Gene: GUSB

Linked Data

• dbSNP Id: rs1790936310
• MyVariant Identifiers: chr7:g.65432830A>G (hg19) ; chr7:g.65967843A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967843A>G , CM000669.2:g.65967843A>G	GRCh38
NC_000007.13:g.65432830A>G , CM000669.1:g.65432830A>G	GRCh37
NC_000007.12:g.65070265A>G	NCBI36
NG_016197.1:g.19472T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1541T>C MANE Select	ENSP00000302728.4:p.Leu514Pro
ENST00000304895.8:c.1541T>C	ENSP00000302728.4:p.Leu514Pro
ENST00000421103.5:c.1103T>C	ENSP00000391390.1:p.Leu368Pro
ENST00000430730.5:c.*808T>C	ENSP00000411859.1:n.*808T>C
ENST00000447929.5:c.*921T>C	ENSP00000411262.1:n.*921T>C
ENST00000461622.1:n.66T>C
ENST00000462371.1:n.579T>C
ENST00000466883.5:n.1931T>C
NM_000181.3:c.1541T>C	NP_000172.2:p.Leu514Pro
NM_001284290.1:c.1103T>C	NP_001271219.1:p.Leu368Pro
NM_001293104.1:c.971T>C	NP_001280033.1:p.Leu324Pro
NM_001293105.1:c.884T>C	NP_001280034.1:p.Leu295Pro
NR_120531.1:n.1587T>C
XM_005250297.3:c.1388T>C	XP_005250354.1:p.Leu463Pro
XM_011516113.1:c.1040T>C	XP_011514415.1:p.Leu347Pro
XM_011516114.1:c.869T>C	XP_011514416.1:p.Leu290Pro
XR_927461.1:n.1627T>C
XM_005250297.4:c.1388T>C	XP_005250354.1:p.Leu463Pro
XM_011516114.2:c.869T>C	XP_011514416.1:p.Leu290Pro
XM_017012091.1:c.887T>C	XP_016867580.1:p.Leu296Pro
XM_017012092.1:c.818T>C	XP_016867581.1:p.Leu273Pro
XM_017012093.2:c.716T>C	XP_016867582.1:p.Leu239Pro
XR_001744658.2:n.1348T>C
XR_001744659.2:n.1461T>C
XR_001744660.2:n.1393T>C
XR_001744661.2:n.1308T>C
XR_927461.3:n.1546T>C
NM_000181.4:c.1541T>C MANE Select	NP_000172.2:p.Leu514Pro
NM_001284290.2:c.1103T>C	NP_001271219.1:p.Leu368Pro
NM_001293104.2:c.971T>C	NP_001280033.1:p.Leu324Pro
NM_001293105.2:c.884T>C	NP_001280034.1:p.Leu295Pro
NR_120531.2:n.1486T>C