Canonical Allele Identifier: CA367639713

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432722T>G (hg19) ; chr7:g.65967735T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967735T>G , CM000669.2:g.65967735T>G	GRCh38
NC_000007.13:g.65432722T>G , CM000669.1:g.65432722T>G	GRCh37
NC_000007.12:g.65070157T>G	NCBI36
NG_016197.1:g.19580A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1649A>C MANE Select	ENSP00000302728.4:p.His550Pro
ENST00000304895.8:c.1649A>C	ENSP00000302728.4:p.His550Pro
ENST00000421103.5:c.1211A>C	ENSP00000391390.1:p.His404Pro
ENST00000430730.5:c.*916A>C	ENSP00000411859.1:n.*916A>C
ENST00000447929.5:c.*1029A>C	ENSP00000411262.1:n.*1029A>C
ENST00000461622.1:n.174A>C
ENST00000462371.1:n.687A>C
ENST00000466883.5:n.2039A>C
NM_000181.3:c.1649A>C	NP_000172.2:p.His550Pro
NM_001284290.1:c.1211A>C	NP_001271219.1:p.His404Pro
NM_001293104.1:c.1079A>C	NP_001280033.1:p.His360Pro
NM_001293105.1:c.992A>C	NP_001280034.1:p.His331Pro
NR_120531.1:n.1695A>C
XM_005250297.3:c.1496A>C	XP_005250354.1:p.His499Pro
XM_011516113.1:c.1148A>C	XP_011514415.1:p.His383Pro
XM_011516114.1:c.977A>C	XP_011514416.1:p.His326Pro
XR_927461.1:n.1735A>C
XM_005250297.4:c.1496A>C	XP_005250354.1:p.His499Pro
XM_011516114.2:c.977A>C	XP_011514416.1:p.His326Pro
XM_017012091.1:c.995A>C	XP_016867580.1:p.His332Pro
XM_017012092.1:c.926A>C	XP_016867581.1:p.His309Pro
XM_017012093.2:c.824A>C	XP_016867582.1:p.His275Pro
XR_001744658.2:n.1456A>C
XR_001744659.2:n.1569A>C
XR_001744660.2:n.1501A>C
XR_001744661.2:n.1416A>C
XR_927461.3:n.1654A>C
NM_000181.4:c.1649A>C MANE Select	NP_000172.2:p.His550Pro
NM_001284290.2:c.1211A>C	NP_001271219.1:p.His404Pro
NM_001293104.2:c.1079A>C	NP_001280033.1:p.His360Pro
NM_001293105.2:c.992A>C	NP_001280034.1:p.His331Pro
NR_120531.2:n.1594A>C