Canonical Allele Identifier: CA367637508

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65426014A>G (hg19) ; chr7:g.65961027A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961027A>G , CM000669.2:g.65961027A>G	GRCh38
NC_000007.13:g.65426014A>G , CM000669.1:g.65426014A>G	GRCh37
NC_000007.12:g.65063449A>G	NCBI36
NG_016197.1:g.26288T>C
NG_051954.1:g.92929A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1826T>C MANE Select	ENSP00000302728.4:p.Phe609Ser
ENST00000304895.8:c.1826T>C	ENSP00000302728.4:p.Phe609Ser
ENST00000421103.5:c.1388T>C	ENSP00000391390.1:p.Phe463Ser
ENST00000430730.5:c.*1093T>C	ENSP00000411859.1:n.*1093T>C
ENST00000447929.5:c.*1206T>C	ENSP00000411262.1:n.*1206T>C
ENST00000466883.5:n.2216T>C
NM_000181.3:c.1826T>C	NP_000172.2:p.Phe609Ser
NM_001284290.1:c.1388T>C	NP_001271219.1:p.Phe463Ser
NM_001293104.1:c.1256T>C	NP_001280033.1:p.Phe419Ser
NM_001293105.1:c.1169T>C	NP_001280034.1:p.Phe390Ser
NR_120531.1:n.1872T>C
XM_005250297.3:c.1673T>C	XP_005250354.1:p.Phe558Ser
XM_011516113.1:c.1325T>C	XP_011514415.1:p.Phe442Ser
XM_011516114.1:c.1154T>C	XP_011514416.1:p.Phe385Ser
XM_005250297.4:c.1673T>C	XP_005250354.1:p.Phe558Ser
XM_011516114.2:c.1154T>C	XP_011514416.1:p.Phe385Ser
XM_017012091.1:c.1172T>C	XP_016867580.1:p.Phe391Ser
XM_017012092.1:c.1103T>C	XP_016867581.1:p.Phe368Ser
XM_017012093.2:c.1001T>C	XP_016867582.1:p.Phe334Ser
XR_001744658.2:n.1633T>C
XR_001744659.2:n.1746T>C
XR_001744660.2:n.1678T>C
XR_001744661.2:n.1593T>C
XR_927461.3:n.1831T>C
NM_000181.4:c.1826T>C MANE Select	NP_000172.2:p.Phe609Ser
NM_001284290.2:c.1388T>C	NP_001271219.1:p.Phe463Ser
NM_001293104.2:c.1256T>C	NP_001280033.1:p.Phe419Ser
NM_001293105.2:c.1169T>C	NP_001280034.1:p.Phe390Ser
NR_120531.2:n.1771T>C