Canonical Allele Identifier: CA367637302

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425973G>C (hg19) ; chr7:g.65960986G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960986G>C , CM000669.2:g.65960986G>C	GRCh38
NC_000007.13:g.65425973G>C , CM000669.1:g.65425973G>C	GRCh37
NC_000007.12:g.65063408G>C	NCBI36
NG_016197.1:g.26329C>G
NG_051954.1:g.92888G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1867C>G MANE Select	ENSP00000302728.4:p.Arg623Gly
ENST00000304895.8:c.1867C>G	ENSP00000302728.4:p.Arg623Gly
ENST00000421103.5:c.1429C>G	ENSP00000391390.1:p.Arg477Gly
ENST00000430730.5:c.*1134C>G	ENSP00000411859.1:n.*1134C>G
ENST00000447929.5:c.*1247C>G	ENSP00000411262.1:n.*1247C>G
ENST00000466883.5:n.2257C>G
NM_000181.3:c.1867C>G	NP_000172.2:p.Arg623Gly
NM_001284290.1:c.1429C>G	NP_001271219.1:p.Arg477Gly
NM_001293104.1:c.1297C>G	NP_001280033.1:p.Arg433Gly
NM_001293105.1:c.1210C>G	NP_001280034.1:p.Arg404Gly
NR_120531.1:n.1913C>G
XM_005250297.3:c.1714C>G	XP_005250354.1:p.Arg572Gly
XM_011516113.1:c.1366C>G	XP_011514415.1:p.Arg456Gly
XM_011516114.1:c.1195C>G	XP_011514416.1:p.Arg399Gly
XM_005250297.4:c.1714C>G	XP_005250354.1:p.Arg572Gly
XM_011516114.2:c.1195C>G	XP_011514416.1:p.Arg399Gly
XM_017012091.1:c.1213C>G	XP_016867580.1:p.Arg405Gly
XM_017012092.1:c.1144C>G	XP_016867581.1:p.Arg382Gly
XM_017012093.2:c.1042C>G	XP_016867582.1:p.Arg348Gly
XR_001744658.2:n.1674C>G
XR_001744659.2:n.1787C>G
XR_001744660.2:n.1719C>G
XR_001744661.2:n.1634C>G
XR_927461.3:n.1872C>G
NM_000181.4:c.1867C>G MANE Select	NP_000172.2:p.Arg623Gly
NM_001284290.2:c.1429C>G	NP_001271219.1:p.Arg477Gly
NM_001293104.2:c.1297C>G	NP_001280033.1:p.Arg433Gly
NM_001293105.2:c.1210C>G	NP_001280034.1:p.Arg404Gly
NR_120531.2:n.1812C>G