Canonical Allele Identifier: CA367637463

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65426005T>C (hg19) ; chr7:g.65961018T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961018T>C , CM000669.2:g.65961018T>C	GRCh38
NC_000007.13:g.65426005T>C , CM000669.1:g.65426005T>C	GRCh37
NC_000007.12:g.65063440T>C	NCBI36
NG_016197.1:g.26297A>G
NG_051954.1:g.92920T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1835A>G MANE Select	ENSP00000302728.4:p.Gln612Arg
ENST00000304895.8:c.1835A>G	ENSP00000302728.4:p.Gln612Arg
ENST00000421103.5:c.1397A>G	ENSP00000391390.1:p.Gln466Arg
ENST00000430730.5:c.*1102A>G	ENSP00000411859.1:n.*1102A>G
ENST00000447929.5:c.*1215A>G	ENSP00000411262.1:n.*1215A>G
ENST00000466883.5:n.2225A>G
NM_000181.3:c.1835A>G	NP_000172.2:p.Gln612Arg
NM_001284290.1:c.1397A>G	NP_001271219.1:p.Gln466Arg
NM_001293104.1:c.1265A>G	NP_001280033.1:p.Gln422Arg
NM_001293105.1:c.1178A>G	NP_001280034.1:p.Gln393Arg
NR_120531.1:n.1881A>G
XM_005250297.3:c.1682A>G	XP_005250354.1:p.Gln561Arg
XM_011516113.1:c.1334A>G	XP_011514415.1:p.Gln445Arg
XM_011516114.1:c.1163A>G	XP_011514416.1:p.Gln388Arg
XM_005250297.4:c.1682A>G	XP_005250354.1:p.Gln561Arg
XM_011516114.2:c.1163A>G	XP_011514416.1:p.Gln388Arg
XM_017012091.1:c.1181A>G	XP_016867580.1:p.Gln394Arg
XM_017012092.1:c.1112A>G	XP_016867581.1:p.Gln371Arg
XM_017012093.2:c.1010A>G	XP_016867582.1:p.Gln337Arg
XR_001744658.2:n.1642A>G
XR_001744659.2:n.1755A>G
XR_001744660.2:n.1687A>G
XR_001744661.2:n.1602A>G
XR_927461.3:n.1840A>G
NM_000181.4:c.1835A>G MANE Select	NP_000172.2:p.Gln612Arg
NM_001284290.2:c.1397A>G	NP_001271219.1:p.Gln466Arg
NM_001293104.2:c.1265A>G	NP_001280033.1:p.Gln422Arg
NM_001293105.2:c.1178A>G	NP_001280034.1:p.Gln393Arg
NR_120531.2:n.1780A>G