Canonical Allele Identifier: CA367637516

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65426015A>C (hg19) ; chr7:g.65961028A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961028A>C , CM000669.2:g.65961028A>C	GRCh38
NC_000007.13:g.65426015A>C , CM000669.1:g.65426015A>C	GRCh37
NC_000007.12:g.65063450A>C	NCBI36
NG_016197.1:g.26287T>G
NG_051954.1:g.92930A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1825T>G MANE Select	ENSP00000302728.4:p.Phe609Val
ENST00000304895.8:c.1825T>G	ENSP00000302728.4:p.Phe609Val
ENST00000421103.5:c.1387T>G	ENSP00000391390.1:p.Phe463Val
ENST00000430730.5:c.*1092T>G	ENSP00000411859.1:n.*1092T>G
ENST00000447929.5:c.*1205T>G	ENSP00000411262.1:n.*1205T>G
ENST00000466883.5:n.2215T>G
NM_000181.3:c.1825T>G	NP_000172.2:p.Phe609Val
NM_001284290.1:c.1387T>G	NP_001271219.1:p.Phe463Val
NM_001293104.1:c.1255T>G	NP_001280033.1:p.Phe419Val
NM_001293105.1:c.1168T>G	NP_001280034.1:p.Phe390Val
NR_120531.1:n.1871T>G
XM_005250297.3:c.1672T>G	XP_005250354.1:p.Phe558Val
XM_011516113.1:c.1324T>G	XP_011514415.1:p.Phe442Val
XM_011516114.1:c.1153T>G	XP_011514416.1:p.Phe385Val
XM_005250297.4:c.1672T>G	XP_005250354.1:p.Phe558Val
XM_011516114.2:c.1153T>G	XP_011514416.1:p.Phe385Val
XM_017012091.1:c.1171T>G	XP_016867580.1:p.Phe391Val
XM_017012092.1:c.1102T>G	XP_016867581.1:p.Phe368Val
XM_017012093.2:c.1000T>G	XP_016867582.1:p.Phe334Val
XR_001744658.2:n.1632T>G
XR_001744659.2:n.1745T>G
XR_001744660.2:n.1677T>G
XR_001744661.2:n.1592T>G
XR_927461.3:n.1830T>G
NM_000181.4:c.1825T>G MANE Select	NP_000172.2:p.Phe609Val
NM_001284290.2:c.1387T>G	NP_001271219.1:p.Phe463Val
NM_001293104.2:c.1255T>G	NP_001280033.1:p.Phe419Val
NM_001293105.2:c.1168T>G	NP_001280034.1:p.Phe390Val
NR_120531.2:n.1770T>G