Canonical Allele Identifier: CA367637460

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65426005T>A (hg19) ; chr7:g.65961018T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961018T>A , CM000669.2:g.65961018T>A	GRCh38
NC_000007.13:g.65426005T>A , CM000669.1:g.65426005T>A	GRCh37
NC_000007.12:g.65063440T>A	NCBI36
NG_016197.1:g.26297A>T
NG_051954.1:g.92920T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1835A>T MANE Select	ENSP00000302728.4:p.Gln612Leu
ENST00000304895.8:c.1835A>T	ENSP00000302728.4:p.Gln612Leu
ENST00000421103.5:c.1397A>T	ENSP00000391390.1:p.Gln466Leu
ENST00000430730.5:c.*1102A>T	ENSP00000411859.1:n.*1102A>T
ENST00000447929.5:c.*1215A>T	ENSP00000411262.1:n.*1215A>T
ENST00000466883.5:n.2225A>T
NM_000181.3:c.1835A>T	NP_000172.2:p.Gln612Leu
NM_001284290.1:c.1397A>T	NP_001271219.1:p.Gln466Leu
NM_001293104.1:c.1265A>T	NP_001280033.1:p.Gln422Leu
NM_001293105.1:c.1178A>T	NP_001280034.1:p.Gln393Leu
NR_120531.1:n.1881A>T
XM_005250297.3:c.1682A>T	XP_005250354.1:p.Gln561Leu
XM_011516113.1:c.1334A>T	XP_011514415.1:p.Gln445Leu
XM_011516114.1:c.1163A>T	XP_011514416.1:p.Gln388Leu
XM_005250297.4:c.1682A>T	XP_005250354.1:p.Gln561Leu
XM_011516114.2:c.1163A>T	XP_011514416.1:p.Gln388Leu
XM_017012091.1:c.1181A>T	XP_016867580.1:p.Gln394Leu
XM_017012092.1:c.1112A>T	XP_016867581.1:p.Gln371Leu
XM_017012093.2:c.1010A>T	XP_016867582.1:p.Gln337Leu
XR_001744658.2:n.1642A>T
XR_001744659.2:n.1755A>T
XR_001744660.2:n.1687A>T
XR_001744661.2:n.1602A>T
XR_927461.3:n.1840A>T
NM_000181.4:c.1835A>T MANE Select	NP_000172.2:p.Gln612Leu
NM_001284290.2:c.1397A>T	NP_001271219.1:p.Gln466Leu
NM_001293104.2:c.1265A>T	NP_001280033.1:p.Gln422Leu
NM_001293105.2:c.1178A>T	NP_001280034.1:p.Gln393Leu
NR_120531.2:n.1780A>T