Canonical Allele Identifier: CA367637297

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425972C>A (hg19) ; chr7:g.65960985C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960985C>A , CM000669.2:g.65960985C>A	GRCh38
NC_000007.13:g.65425972C>A , CM000669.1:g.65425972C>A	GRCh37
NC_000007.12:g.65063407C>A	NCBI36
NG_016197.1:g.26330G>T
NG_051954.1:g.92887C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1868G>T MANE Select	ENSP00000302728.4:p.Arg623Leu
ENST00000304895.8:c.1868G>T	ENSP00000302728.4:p.Arg623Leu
ENST00000421103.5:c.1430G>T	ENSP00000391390.1:p.Arg477Leu
ENST00000430730.5:c.*1135G>T	ENSP00000411859.1:n.*1135G>T
ENST00000447929.5:c.*1248G>T	ENSP00000411262.1:n.*1248G>T
ENST00000466883.5:n.2258G>T
NM_000181.3:c.1868G>T	NP_000172.2:p.Arg623Leu
NM_001284290.1:c.1430G>T	NP_001271219.1:p.Arg477Leu
NM_001293104.1:c.1298G>T	NP_001280033.1:p.Arg433Leu
NM_001293105.1:c.1211G>T	NP_001280034.1:p.Arg404Leu
NR_120531.1:n.1914G>T
XM_005250297.3:c.1715G>T	XP_005250354.1:p.Arg572Leu
XM_011516113.1:c.1367G>T	XP_011514415.1:p.Arg456Leu
XM_011516114.1:c.1196G>T	XP_011514416.1:p.Arg399Leu
XM_005250297.4:c.1715G>T	XP_005250354.1:p.Arg572Leu
XM_011516114.2:c.1196G>T	XP_011514416.1:p.Arg399Leu
XM_017012091.1:c.1214G>T	XP_016867580.1:p.Arg405Leu
XM_017012092.1:c.1145G>T	XP_016867581.1:p.Arg382Leu
XM_017012093.2:c.1043G>T	XP_016867582.1:p.Arg348Leu
XR_001744658.2:n.1675G>T
XR_001744659.2:n.1788G>T
XR_001744660.2:n.1720G>T
XR_001744661.2:n.1635G>T
XR_927461.3:n.1873G>T
NM_000181.4:c.1868G>T MANE Select	NP_000172.2:p.Arg623Leu
NM_001284290.2:c.1430G>T	NP_001271219.1:p.Arg477Leu
NM_001293104.2:c.1298G>T	NP_001280033.1:p.Arg433Leu
NM_001293105.2:c.1211G>T	NP_001280034.1:p.Arg404Leu
NR_120531.2:n.1813G>T