Canonical Allele Identifier: CA367637024

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425910A>C (hg19) ; chr7:g.65960923A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960923A>C , CM000669.2:g.65960923A>C	GRCh38
NC_000007.13:g.65425910A>C , CM000669.1:g.65425910A>C	GRCh37
NC_000007.12:g.65063345A>C	NCBI36
NG_016197.1:g.26392T>G
NG_051954.1:g.92825A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1930T>G MANE Select	ENSP00000302728.4:p.Cys644Gly
ENST00000304895.8:c.1930T>G	ENSP00000302728.4:p.Cys644Gly
ENST00000421103.5:c.1492T>G	ENSP00000391390.1:p.Cys498Gly
ENST00000430730.5:c.*1197T>G	ENSP00000411859.1:n.*1197T>G
ENST00000447929.5:c.*1310T>G	ENSP00000411262.1:n.*1310T>G
ENST00000466883.5:n.2320T>G
NM_000181.3:c.1930T>G	NP_000172.2:p.Cys644Gly
NM_001284290.1:c.1492T>G	NP_001271219.1:p.Cys498Gly
NM_001293104.1:c.1360T>G	NP_001280033.1:p.Cys454Gly
NM_001293105.1:c.1273T>G	NP_001280034.1:p.Cys425Gly
NR_120531.1:n.1976T>G
XM_005250297.3:c.1777T>G	XP_005250354.1:p.Cys593Gly
XM_011516113.1:c.1429T>G	XP_011514415.1:p.Cys477Gly
XM_011516114.1:c.1258T>G	XP_011514416.1:p.Cys420Gly
XM_005250297.4:c.1777T>G	XP_005250354.1:p.Cys593Gly
XM_011516114.2:c.1258T>G	XP_011514416.1:p.Cys420Gly
XM_017012091.1:c.1276T>G	XP_016867580.1:p.Cys426Gly
XM_017012092.1:c.1207T>G	XP_016867581.1:p.Cys403Gly
XM_017012093.2:c.1105T>G	XP_016867582.1:p.Cys369Gly
XR_001744658.2:n.1737T>G
XR_001744659.2:n.1850T>G
XR_001744660.2:n.1782T>G
XR_001744661.2:n.1697T>G
XR_927461.3:n.1935T>G
NM_000181.4:c.1930T>G MANE Select	NP_000172.2:p.Cys644Gly
NM_001284290.2:c.1492T>G	NP_001271219.1:p.Cys498Gly
NM_001293104.2:c.1360T>G	NP_001280033.1:p.Cys454Gly
NM_001293105.2:c.1273T>G	NP_001280034.1:p.Cys425Gly
NR_120531.2:n.1875T>G