Canonical Allele Identifier: CA367637229

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425957T>C (hg19) ; chr7:g.65960970T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960970T>C , CM000669.2:g.65960970T>C	GRCh38
NC_000007.13:g.65425957T>C , CM000669.1:g.65425957T>C	GRCh37
NC_000007.12:g.65063392T>C	NCBI36
NG_016197.1:g.26345A>G
NG_051954.1:g.92872T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1883A>G MANE Select	ENSP00000302728.4:p.Lys628Arg
ENST00000304895.8:c.1883A>G	ENSP00000302728.4:p.Lys628Arg
ENST00000421103.5:c.1445A>G	ENSP00000391390.1:p.Lys482Arg
ENST00000430730.5:c.*1150A>G	ENSP00000411859.1:n.*1150A>G
ENST00000447929.5:c.*1263A>G	ENSP00000411262.1:n.*1263A>G
ENST00000466883.5:n.2273A>G
NM_000181.3:c.1883A>G	NP_000172.2:p.Lys628Arg
NM_001284290.1:c.1445A>G	NP_001271219.1:p.Lys482Arg
NM_001293104.1:c.1313A>G	NP_001280033.1:p.Lys438Arg
NM_001293105.1:c.1226A>G	NP_001280034.1:p.Lys409Arg
NR_120531.1:n.1929A>G
XM_005250297.3:c.1730A>G	XP_005250354.1:p.Lys577Arg
XM_011516113.1:c.1382A>G	XP_011514415.1:p.Lys461Arg
XM_011516114.1:c.1211A>G	XP_011514416.1:p.Lys404Arg
XM_005250297.4:c.1730A>G	XP_005250354.1:p.Lys577Arg
XM_011516114.2:c.1211A>G	XP_011514416.1:p.Lys404Arg
XM_017012091.1:c.1229A>G	XP_016867580.1:p.Lys410Arg
XM_017012092.1:c.1160A>G	XP_016867581.1:p.Lys387Arg
XM_017012093.2:c.1058A>G	XP_016867582.1:p.Lys353Arg
XR_001744658.2:n.1690A>G
XR_001744659.2:n.1803A>G
XR_001744660.2:n.1735A>G
XR_001744661.2:n.1650A>G
XR_927461.3:n.1888A>G
NM_000181.4:c.1883A>G MANE Select	NP_000172.2:p.Lys628Arg
NM_001284290.2:c.1445A>G	NP_001271219.1:p.Lys482Arg
NM_001293104.2:c.1313A>G	NP_001280033.1:p.Lys438Arg
NM_001293105.2:c.1226A>G	NP_001280034.1:p.Lys409Arg
NR_120531.2:n.1828A>G