Canonical Allele Identifier: CA367637437

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425999T>C (hg19) ; chr7:g.65961012T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961012T>C , CM000669.2:g.65961012T>C	GRCh38
NC_000007.13:g.65425999T>C , CM000669.1:g.65425999T>C	GRCh37
NC_000007.12:g.65063434T>C	NCBI36
NG_016197.1:g.26303A>G
NG_051954.1:g.92914T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1841A>G MANE Select	ENSP00000302728.4:p.Gln614Arg
ENST00000304895.8:c.1841A>G	ENSP00000302728.4:p.Gln614Arg
ENST00000421103.5:c.1403A>G	ENSP00000391390.1:p.Gln468Arg
ENST00000430730.5:c.*1108A>G	ENSP00000411859.1:n.*1108A>G
ENST00000447929.5:c.*1221A>G	ENSP00000411262.1:n.*1221A>G
ENST00000466883.5:n.2231A>G
NM_000181.3:c.1841A>G	NP_000172.2:p.Gln614Arg
NM_001284290.1:c.1403A>G	NP_001271219.1:p.Gln468Arg
NM_001293104.1:c.1271A>G	NP_001280033.1:p.Gln424Arg
NM_001293105.1:c.1184A>G	NP_001280034.1:p.Gln395Arg
NR_120531.1:n.1887A>G
XM_005250297.3:c.1688A>G	XP_005250354.1:p.Gln563Arg
XM_011516113.1:c.1340A>G	XP_011514415.1:p.Gln447Arg
XM_011516114.1:c.1169A>G	XP_011514416.1:p.Gln390Arg
XM_005250297.4:c.1688A>G	XP_005250354.1:p.Gln563Arg
XM_011516114.2:c.1169A>G	XP_011514416.1:p.Gln390Arg
XM_017012091.1:c.1187A>G	XP_016867580.1:p.Gln396Arg
XM_017012092.1:c.1118A>G	XP_016867581.1:p.Gln373Arg
XM_017012093.2:c.1016A>G	XP_016867582.1:p.Gln339Arg
XR_001744658.2:n.1648A>G
XR_001744659.2:n.1761A>G
XR_001744660.2:n.1693A>G
XR_001744661.2:n.1608A>G
XR_927461.3:n.1846A>G
NM_000181.4:c.1841A>G MANE Select	NP_000172.2:p.Gln614Arg
NM_001284290.2:c.1403A>G	NP_001271219.1:p.Gln468Arg
NM_001293104.2:c.1271A>G	NP_001280033.1:p.Gln424Arg
NM_001293105.2:c.1184A>G	NP_001280034.1:p.Gln395Arg
NR_120531.2:n.1786A>G