Canonical Allele Identifier: CA367637687

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65426041C>G (hg19) ; chr7:g.65961054C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961054C>G , CM000669.2:g.65961054C>G	GRCh38
NC_000007.13:g.65426041C>G , CM000669.1:g.65426041C>G	GRCh37
NC_000007.12:g.65063476C>G	NCBI36
NG_016197.1:g.26261G>C
NG_051954.1:g.92956C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1799G>C MANE Select	ENSP00000302728.4:p.Arg600Thr
ENST00000304895.8:c.1799G>C	ENSP00000302728.4:p.Arg600Thr
ENST00000421103.5:c.1361G>C	ENSP00000391390.1:p.Arg454Thr
ENST00000430730.5:c.*1066G>C	ENSP00000411859.1:n.*1066G>C
ENST00000447929.5:c.*1179G>C	ENSP00000411262.1:n.*1179G>C
ENST00000466883.5:n.2189G>C
NM_000181.3:c.1799G>C	NP_000172.2:p.Arg600Thr
NM_001284290.1:c.1361G>C	NP_001271219.1:p.Arg454Thr
NM_001293104.1:c.1229G>C	NP_001280033.1:p.Arg410Thr
NM_001293105.1:c.1142G>C	NP_001280034.1:p.Arg381Thr
NR_120531.1:n.1845G>C
XM_005250297.3:c.1646G>C	XP_005250354.1:p.Arg549Thr
XM_011516113.1:c.1298G>C	XP_011514415.1:p.Arg433Thr
XM_011516114.1:c.1127G>C	XP_011514416.1:p.Arg376Thr
XM_005250297.4:c.1646G>C	XP_005250354.1:p.Arg549Thr
XM_011516114.2:c.1127G>C	XP_011514416.1:p.Arg376Thr
XM_017012091.1:c.1145G>C	XP_016867580.1:p.Arg382Thr
XM_017012092.1:c.1076G>C	XP_016867581.1:p.Arg359Thr
XM_017012093.2:c.974G>C	XP_016867582.1:p.Arg325Thr
XR_001744658.2:n.1606G>C
XR_001744659.2:n.1719G>C
XR_001744660.2:n.1651G>C
XR_001744661.2:n.1566G>C
XR_927461.3:n.1804G>C
NM_000181.4:c.1799G>C MANE Select	NP_000172.2:p.Arg600Thr
NM_001284290.2:c.1361G>C	NP_001271219.1:p.Arg454Thr
NM_001293104.2:c.1229G>C	NP_001280033.1:p.Arg410Thr
NM_001293105.2:c.1142G>C	NP_001280034.1:p.Arg381Thr
NR_120531.2:n.1744G>C