Canonical Allele Identifier: CA367639699

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432719T>A (hg19) ; chr7:g.65967732T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967732T>A , CM000669.2:g.65967732T>A	GRCh38
NC_000007.13:g.65432719T>A , CM000669.1:g.65432719T>A	GRCh37
NC_000007.12:g.65070154T>A	NCBI36
NG_016197.1:g.19583A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1652A>T MANE Select	ENSP00000302728.4:p.Gln551Leu
ENST00000304895.8:c.1652A>T	ENSP00000302728.4:p.Gln551Leu
ENST00000421103.5:c.1214A>T	ENSP00000391390.1:p.Gln405Leu
ENST00000430730.5:c.*919A>T	ENSP00000411859.1:n.*919A>T
ENST00000447929.5:c.*1032A>T	ENSP00000411262.1:n.*1032A>T
ENST00000461622.1:n.177A>T
ENST00000462371.1:n.690A>T
ENST00000466883.5:n.2042A>T
NM_000181.3:c.1652A>T	NP_000172.2:p.Gln551Leu
NM_001284290.1:c.1214A>T	NP_001271219.1:p.Gln405Leu
NM_001293104.1:c.1082A>T	NP_001280033.1:p.Gln361Leu
NM_001293105.1:c.995A>T	NP_001280034.1:p.Gln332Leu
NR_120531.1:n.1698A>T
XM_005250297.3:c.1499A>T	XP_005250354.1:p.Gln500Leu
XM_011516113.1:c.1151A>T	XP_011514415.1:p.Gln384Leu
XM_011516114.1:c.980A>T	XP_011514416.1:p.Gln327Leu
XR_927461.1:n.1738A>T
XM_005250297.4:c.1499A>T	XP_005250354.1:p.Gln500Leu
XM_011516114.2:c.980A>T	XP_011514416.1:p.Gln327Leu
XM_017012091.1:c.998A>T	XP_016867580.1:p.Gln333Leu
XM_017012092.1:c.929A>T	XP_016867581.1:p.Gln310Leu
XM_017012093.2:c.827A>T	XP_016867582.1:p.Gln276Leu
XR_001744658.2:n.1459A>T
XR_001744659.2:n.1572A>T
XR_001744660.2:n.1504A>T
XR_001744661.2:n.1419A>T
XR_927461.3:n.1657A>T
NM_000181.4:c.1652A>T MANE Select	NP_000172.2:p.Gln551Leu
NM_001284290.2:c.1214A>T	NP_001271219.1:p.Gln405Leu
NM_001293104.2:c.1082A>T	NP_001280033.1:p.Gln361Leu
NM_001293105.2:c.995A>T	NP_001280034.1:p.Gln332Leu
NR_120531.2:n.1597A>T