Canonical Allele Identifier: CA367639711

Gene: GUSB

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1649A>T MANE Select	ENSP00000302728.4:p.His550Leu
ENST00000304895.8:c.1649A>T	ENSP00000302728.4:p.His550Leu
ENST00000421103.5:c.1211A>T	ENSP00000391390.1:p.His404Leu
ENST00000430730.5:c.*916A>T	ENSP00000411859.1:n.*916A>T
ENST00000447929.5:c.*1029A>T	ENSP00000411262.1:n.*1029A>T
ENST00000461622.1:n.174A>T
ENST00000462371.1:n.687A>T
ENST00000466883.5:n.2039A>T
NM_000181.3:c.1649A>T	NP_000172.2:p.His550Leu
NM_001284290.1:c.1211A>T	NP_001271219.1:p.His404Leu
NM_001293104.1:c.1079A>T	NP_001280033.1:p.His360Leu
NM_001293105.1:c.992A>T	NP_001280034.1:p.His331Leu
NR_120531.1:n.1695A>T
XM_005250297.3:c.1496A>T	XP_005250354.1:p.His499Leu
XM_011516113.1:c.1148A>T	XP_011514415.1:p.His383Leu
XM_011516114.1:c.977A>T	XP_011514416.1:p.His326Leu
XR_927461.1:n.1735A>T
XM_005250297.4:c.1496A>T	XP_005250354.1:p.His499Leu
XM_011516114.2:c.977A>T	XP_011514416.1:p.His326Leu
XM_017012091.1:c.995A>T	XP_016867580.1:p.His332Leu
XM_017012092.1:c.926A>T	XP_016867581.1:p.His309Leu
XM_017012093.2:c.824A>T	XP_016867582.1:p.His275Leu
XR_001744658.2:n.1456A>T
XR_001744659.2:n.1569A>T
XR_001744660.2:n.1501A>T
XR_001744661.2:n.1416A>T
XR_927461.3:n.1654A>T
NM_000181.4:c.1649A>T MANE Select	NP_000172.2:p.His550Leu
NM_001284290.2:c.1211A>T	NP_001271219.1:p.His404Leu
NM_001293104.2:c.1079A>T	NP_001280033.1:p.His360Leu
NM_001293105.2:c.992A>T	NP_001280034.1:p.His331Leu
NR_120531.2:n.1594A>T