Canonical Allele Identifier: CA367637117

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425931G>C (hg19) ; chr7:g.65960944G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960944G>C , CM000669.2:g.65960944G>C	GRCh38
NC_000007.13:g.65425931G>C , CM000669.1:g.65425931G>C	GRCh37
NC_000007.12:g.65063366G>C	NCBI36
NG_016197.1:g.26371C>G
NG_051954.1:g.92846G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1909C>G MANE Select	ENSP00000302728.4:p.His637Asp
ENST00000304895.8:c.1909C>G	ENSP00000302728.4:p.His637Asp
ENST00000421103.5:c.1471C>G	ENSP00000391390.1:p.His491Asp
ENST00000430730.5:c.*1176C>G	ENSP00000411859.1:n.*1176C>G
ENST00000447929.5:c.*1289C>G	ENSP00000411262.1:n.*1289C>G
ENST00000466883.5:n.2299C>G
NM_000181.3:c.1909C>G	NP_000172.2:p.His637Asp
NM_001284290.1:c.1471C>G	NP_001271219.1:p.His491Asp
NM_001293104.1:c.1339C>G	NP_001280033.1:p.His447Asp
NM_001293105.1:c.1252C>G	NP_001280034.1:p.His418Asp
NR_120531.1:n.1955C>G
XM_005250297.3:c.1756C>G	XP_005250354.1:p.His586Asp
XM_011516113.1:c.1408C>G	XP_011514415.1:p.His470Asp
XM_011516114.1:c.1237C>G	XP_011514416.1:p.His413Asp
XM_005250297.4:c.1756C>G	XP_005250354.1:p.His586Asp
XM_011516114.2:c.1237C>G	XP_011514416.1:p.His413Asp
XM_017012091.1:c.1255C>G	XP_016867580.1:p.His419Asp
XM_017012092.1:c.1186C>G	XP_016867581.1:p.His396Asp
XM_017012093.2:c.1084C>G	XP_016867582.1:p.His362Asp
XR_001744658.2:n.1716C>G
XR_001744659.2:n.1829C>G
XR_001744660.2:n.1761C>G
XR_001744661.2:n.1676C>G
XR_927461.3:n.1914C>G
NM_000181.4:c.1909C>G MANE Select	NP_000172.2:p.His637Asp
NM_001284290.2:c.1471C>G	NP_001271219.1:p.His491Asp
NM_001293104.2:c.1339C>G	NP_001280033.1:p.His447Asp
NM_001293105.2:c.1252C>G	NP_001280034.1:p.His418Asp
NR_120531.2:n.1854C>G