Canonical Allele Identifier: CA367637511

Gene: GUSB

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1825T>C MANE Select	ENSP00000302728.4:p.Phe609Leu
ENST00000304895.8:c.1825T>C	ENSP00000302728.4:p.Phe609Leu
ENST00000421103.5:c.1387T>C	ENSP00000391390.1:p.Phe463Leu
ENST00000430730.5:c.*1092T>C	ENSP00000411859.1:n.*1092T>C
ENST00000447929.5:c.*1205T>C	ENSP00000411262.1:n.*1205T>C
ENST00000466883.5:n.2215T>C
NM_000181.3:c.1825T>C	NP_000172.2:p.Phe609Leu
NM_001284290.1:c.1387T>C	NP_001271219.1:p.Phe463Leu
NM_001293104.1:c.1255T>C	NP_001280033.1:p.Phe419Leu
NM_001293105.1:c.1168T>C	NP_001280034.1:p.Phe390Leu
NR_120531.1:n.1871T>C
XM_005250297.3:c.1672T>C	XP_005250354.1:p.Phe558Leu
XM_011516113.1:c.1324T>C	XP_011514415.1:p.Phe442Leu
XM_011516114.1:c.1153T>C	XP_011514416.1:p.Phe385Leu
XM_005250297.4:c.1672T>C	XP_005250354.1:p.Phe558Leu
XM_011516114.2:c.1153T>C	XP_011514416.1:p.Phe385Leu
XM_017012091.1:c.1171T>C	XP_016867580.1:p.Phe391Leu
XM_017012092.1:c.1102T>C	XP_016867581.1:p.Phe368Leu
XM_017012093.2:c.1000T>C	XP_016867582.1:p.Phe334Leu
XR_001744658.2:n.1632T>C
XR_001744659.2:n.1745T>C
XR_001744660.2:n.1677T>C
XR_001744661.2:n.1592T>C
XR_927461.3:n.1830T>C
NM_000181.4:c.1825T>C MANE Select	NP_000172.2:p.Phe609Leu
NM_001284290.2:c.1387T>C	NP_001271219.1:p.Phe463Leu
NM_001293104.2:c.1255T>C	NP_001280033.1:p.Phe419Leu
NM_001293105.2:c.1168T>C	NP_001280034.1:p.Phe390Leu
NR_120531.2:n.1770T>C