Canonical Allele Identifier: CA367637153

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425939C>A (hg19) ; chr7:g.65960952C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960952C>A , CM000669.2:g.65960952C>A	GRCh38
NC_000007.13:g.65425939C>A , CM000669.1:g.65425939C>A	GRCh37
NC_000007.12:g.65063374C>A	NCBI36
NG_016197.1:g.26363G>T
NG_051954.1:g.92854C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1901G>T MANE Select	ENSP00000302728.4:p.Arg634Met
ENST00000304895.8:c.1901G>T	ENSP00000302728.4:p.Arg634Met
ENST00000421103.5:c.1463G>T	ENSP00000391390.1:p.Arg488Met
ENST00000430730.5:c.*1168G>T	ENSP00000411859.1:n.*1168G>T
ENST00000447929.5:c.*1281G>T	ENSP00000411262.1:n.*1281G>T
ENST00000466883.5:n.2291G>T
NM_000181.3:c.1901G>T	NP_000172.2:p.Arg634Met
NM_001284290.1:c.1463G>T	NP_001271219.1:p.Arg488Met
NM_001293104.1:c.1331G>T	NP_001280033.1:p.Arg444Met
NM_001293105.1:c.1244G>T	NP_001280034.1:p.Arg415Met
NR_120531.1:n.1947G>T
XM_005250297.3:c.1748G>T	XP_005250354.1:p.Arg583Met
XM_011516113.1:c.1400G>T	XP_011514415.1:p.Arg467Met
XM_011516114.1:c.1229G>T	XP_011514416.1:p.Arg410Met
XM_005250297.4:c.1748G>T	XP_005250354.1:p.Arg583Met
XM_011516114.2:c.1229G>T	XP_011514416.1:p.Arg410Met
XM_017012091.1:c.1247G>T	XP_016867580.1:p.Arg416Met
XM_017012092.1:c.1178G>T	XP_016867581.1:p.Arg393Met
XM_017012093.2:c.1076G>T	XP_016867582.1:p.Arg359Met
XR_001744658.2:n.1708G>T
XR_001744659.2:n.1821G>T
XR_001744660.2:n.1753G>T
XR_001744661.2:n.1668G>T
XR_927461.3:n.1906G>T
NM_000181.4:c.1901G>T MANE Select	NP_000172.2:p.Arg634Met
NM_001284290.2:c.1463G>T	NP_001271219.1:p.Arg488Met
NM_001293104.2:c.1331G>T	NP_001280033.1:p.Arg444Met
NM_001293105.2:c.1244G>T	NP_001280034.1:p.Arg415Met
NR_120531.2:n.1846G>T