Canonical Allele Identifier: CA367640553

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432884A>C (hg19) ; chr7:g.65967897A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967897A>C , CM000669.2:g.65967897A>C	GRCh38
NC_000007.13:g.65432884A>C , CM000669.1:g.65432884A>C	GRCh37
NC_000007.12:g.65070319A>C	NCBI36
NG_016197.1:g.19418T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1487T>G MANE Select	ENSP00000302728.4:p.Val496Gly
ENST00000304895.8:c.1487T>G	ENSP00000302728.4:p.Val496Gly
ENST00000421103.5:c.1049T>G	ENSP00000391390.1:p.Val350Gly
ENST00000430730.5:c.*754T>G	ENSP00000411859.1:n.*754T>G
ENST00000447929.5:c.*867T>G	ENSP00000411262.1:n.*867T>G
ENST00000461622.1:n.12T>G
ENST00000462371.1:n.525T>G
ENST00000466883.5:n.1877T>G
NM_000181.3:c.1487T>G	NP_000172.2:p.Val496Gly
NM_001284290.1:c.1049T>G	NP_001271219.1:p.Val350Gly
NM_001293104.1:c.917T>G	NP_001280033.1:p.Val306Gly
NM_001293105.1:c.830T>G	NP_001280034.1:p.Val277Gly
NR_120531.1:n.1533T>G
XM_005250297.3:c.1334T>G	XP_005250354.1:p.Val445Gly
XM_011516113.1:c.986T>G	XP_011514415.1:p.Val329Gly
XM_011516114.1:c.815T>G	XP_011514416.1:p.Val272Gly
XR_927461.1:n.1573T>G
XM_005250297.4:c.1334T>G	XP_005250354.1:p.Val445Gly
XM_011516114.2:c.815T>G	XP_011514416.1:p.Val272Gly
XM_017012091.1:c.833T>G	XP_016867580.1:p.Val278Gly
XM_017012092.1:c.764T>G	XP_016867581.1:p.Val255Gly
XM_017012093.2:c.662T>G	XP_016867582.1:p.Val221Gly
XR_001744658.2:n.1294T>G
XR_001744659.2:n.1407T>G
XR_001744660.2:n.1339T>G
XR_001744661.2:n.1254T>G
XR_927461.3:n.1492T>G
NM_000181.4:c.1487T>G MANE Select	NP_000172.2:p.Val496Gly
NM_001284290.2:c.1049T>G	NP_001271219.1:p.Val350Gly
NM_001293104.2:c.917T>G	NP_001280033.1:p.Val306Gly
NM_001293105.2:c.830T>G	NP_001280034.1:p.Val277Gly
NR_120531.2:n.1432T>G