Canonical Allele Identifier: CA367637714

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65426047G>C (hg19) ; chr7:g.65961060G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961060G>C , CM000669.2:g.65961060G>C	GRCh38
NC_000007.13:g.65426047G>C , CM000669.1:g.65426047G>C	GRCh37
NC_000007.12:g.65063482G>C	NCBI36
NG_016197.1:g.26255C>G
NG_051954.1:g.92962G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1793C>G MANE Select	ENSP00000302728.4:p.Pro598Arg
ENST00000304895.8:c.1793C>G	ENSP00000302728.4:p.Pro598Arg
ENST00000421103.5:c.1355C>G	ENSP00000391390.1:p.Pro452Arg
ENST00000430730.5:c.*1060C>G	ENSP00000411859.1:n.*1060C>G
ENST00000447929.5:c.*1173C>G	ENSP00000411262.1:n.*1173C>G
ENST00000466883.5:n.2183C>G
NM_000181.3:c.1793C>G	NP_000172.2:p.Pro598Arg
NM_001284290.1:c.1355C>G	NP_001271219.1:p.Pro452Arg
NM_001293104.1:c.1223C>G	NP_001280033.1:p.Pro408Arg
NM_001293105.1:c.1136C>G	NP_001280034.1:p.Pro379Arg
NR_120531.1:n.1839C>G
XM_005250297.3:c.1640C>G	XP_005250354.1:p.Pro547Arg
XM_011516113.1:c.1292C>G	XP_011514415.1:p.Pro431Arg
XM_011516114.1:c.1121C>G	XP_011514416.1:p.Pro374Arg
XM_005250297.4:c.1640C>G	XP_005250354.1:p.Pro547Arg
XM_011516114.2:c.1121C>G	XP_011514416.1:p.Pro374Arg
XM_017012091.1:c.1139C>G	XP_016867580.1:p.Pro380Arg
XM_017012092.1:c.1070C>G	XP_016867581.1:p.Pro357Arg
XM_017012093.2:c.968C>G	XP_016867582.1:p.Pro323Arg
XR_001744658.2:n.1600C>G
XR_001744659.2:n.1713C>G
XR_001744660.2:n.1645C>G
XR_001744661.2:n.1560C>G
XR_927461.3:n.1798C>G
NM_000181.4:c.1793C>G MANE Select	NP_000172.2:p.Pro598Arg
NM_001284290.2:c.1355C>G	NP_001271219.1:p.Pro452Arg
NM_001293104.2:c.1223C>G	NP_001280033.1:p.Pro408Arg
NM_001293105.2:c.1136C>G	NP_001280034.1:p.Pro379Arg
NR_120531.2:n.1738C>G