Canonical Allele Identifier: CA367637481

Gene: GUSB

Linked Data

• gnomAD v4: 7-65961021-C-A
• MyVariant Identifiers: chr7:g.65426008C>A (hg19) ; chr7:g.65961021C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961021C>A , CM000669.2:g.65961021C>A	GRCh38
NC_000007.13:g.65426008C>A , CM000669.1:g.65426008C>A	GRCh37
NC_000007.12:g.65063443C>A	NCBI36
NG_016197.1:g.26294G>T
NG_051954.1:g.92923C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1832G>T MANE Select	ENSP00000302728.4:p.Arg611Leu
ENST00000304895.8:c.1832G>T	ENSP00000302728.4:p.Arg611Leu
ENST00000421103.5:c.1394G>T	ENSP00000391390.1:p.Arg465Leu
ENST00000430730.5:c.*1099G>T	ENSP00000411859.1:n.*1099G>T
ENST00000447929.5:c.*1212G>T	ENSP00000411262.1:n.*1212G>T
ENST00000466883.5:n.2222G>T
NM_000181.3:c.1832G>T	NP_000172.2:p.Arg611Leu
NM_001284290.1:c.1394G>T	NP_001271219.1:p.Arg465Leu
NM_001293104.1:c.1262G>T	NP_001280033.1:p.Arg421Leu
NM_001293105.1:c.1175G>T	NP_001280034.1:p.Arg392Leu
NR_120531.1:n.1878G>T
XM_005250297.3:c.1679G>T	XP_005250354.1:p.Arg560Leu
XM_011516113.1:c.1331G>T	XP_011514415.1:p.Arg444Leu
XM_011516114.1:c.1160G>T	XP_011514416.1:p.Arg387Leu
XM_005250297.4:c.1679G>T	XP_005250354.1:p.Arg560Leu
XM_011516114.2:c.1160G>T	XP_011514416.1:p.Arg387Leu
XM_017012091.1:c.1178G>T	XP_016867580.1:p.Arg393Leu
XM_017012092.1:c.1109G>T	XP_016867581.1:p.Arg370Leu
XM_017012093.2:c.1007G>T	XP_016867582.1:p.Arg336Leu
XR_001744658.2:n.1639G>T
XR_001744659.2:n.1752G>T
XR_001744660.2:n.1684G>T
XR_001744661.2:n.1599G>T
XR_927461.3:n.1837G>T
NM_000181.4:c.1832G>T MANE Select	NP_000172.2:p.Arg611Leu
NM_001284290.2:c.1394G>T	NP_001271219.1:p.Arg465Leu
NM_001293104.2:c.1262G>T	NP_001280033.1:p.Arg421Leu
NM_001293105.2:c.1175G>T	NP_001280034.1:p.Arg392Leu
NR_120531.2:n.1777G>T