Canonical Allele Identifier: CA367637107

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425929G>T (hg19) ; chr7:g.65960942G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960942G>T , CM000669.2:g.65960942G>T	GRCh38
NC_000007.13:g.65425929G>T , CM000669.1:g.65425929G>T	GRCh37
NC_000007.12:g.65063364G>T	NCBI36
NG_016197.1:g.26373C>A
NG_051954.1:g.92844G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1911C>A MANE Select	ENSP00000302728.4:p.His637Gln
ENST00000304895.8:c.1911C>A	ENSP00000302728.4:p.His637Gln
ENST00000421103.5:c.1473C>A	ENSP00000391390.1:p.His491Gln
ENST00000430730.5:c.*1178C>A	ENSP00000411859.1:n.*1178C>A
ENST00000447929.5:c.*1291C>A	ENSP00000411262.1:n.*1291C>A
ENST00000466883.5:n.2301C>A
NM_000181.3:c.1911C>A	NP_000172.2:p.His637Gln
NM_001284290.1:c.1473C>A	NP_001271219.1:p.His491Gln
NM_001293104.1:c.1341C>A	NP_001280033.1:p.His447Gln
NM_001293105.1:c.1254C>A	NP_001280034.1:p.His418Gln
NR_120531.1:n.1957C>A
XM_005250297.3:c.1758C>A	XP_005250354.1:p.His586Gln
XM_011516113.1:c.1410C>A	XP_011514415.1:p.His470Gln
XM_011516114.1:c.1239C>A	XP_011514416.1:p.His413Gln
XM_005250297.4:c.1758C>A	XP_005250354.1:p.His586Gln
XM_011516114.2:c.1239C>A	XP_011514416.1:p.His413Gln
XM_017012091.1:c.1257C>A	XP_016867580.1:p.His419Gln
XM_017012092.1:c.1188C>A	XP_016867581.1:p.His396Gln
XM_017012093.2:c.1086C>A	XP_016867582.1:p.His362Gln
XR_001744658.2:n.1718C>A
XR_001744659.2:n.1831C>A
XR_001744660.2:n.1763C>A
XR_001744661.2:n.1678C>A
XR_927461.3:n.1916C>A
NM_000181.4:c.1911C>A MANE Select	NP_000172.2:p.His637Gln
NM_001284290.2:c.1473C>A	NP_001271219.1:p.His491Gln
NM_001293104.2:c.1341C>A	NP_001280033.1:p.His447Gln
NM_001293105.2:c.1254C>A	NP_001280034.1:p.His418Gln
NR_120531.2:n.1856C>A