Canonical Allele Identifier: CA367640385

Gene: GUSB

Linked Data

• gnomAD v4: 7-65967869-G-T
• MyVariant Identifiers: chr7:g.65432856G>T (hg19) ; chr7:g.65967869G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967869G>T , CM000669.2:g.65967869G>T	GRCh38
NC_000007.13:g.65432856G>T , CM000669.1:g.65432856G>T	GRCh37
NC_000007.12:g.65070291G>T	NCBI36
NG_016197.1:g.19446C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1515C>A MANE Select	ENSP00000302728.4:p.Tyr505Ter
ENST00000304895.8:c.1515C>A	ENSP00000302728.4:p.Tyr505Ter
ENST00000421103.5:c.1077C>A	ENSP00000391390.1:p.Tyr359Ter
ENST00000430730.5:c.*782C>A	ENSP00000411859.1:n.*782C>A
ENST00000447929.5:c.*895C>A	ENSP00000411262.1:n.*895C>A
ENST00000461622.1:n.40C>A
ENST00000462371.1:n.553C>A
ENST00000466883.5:n.1905C>A
NM_000181.3:c.1515C>A	NP_000172.2:p.Tyr505Ter
NM_001284290.1:c.1077C>A	NP_001271219.1:p.Tyr359Ter
NM_001293104.1:c.945C>A	NP_001280033.1:p.Tyr315Ter
NM_001293105.1:c.858C>A	NP_001280034.1:p.Tyr286Ter
NR_120531.1:n.1561C>A
XM_005250297.3:c.1362C>A	XP_005250354.1:p.Tyr454Ter
XM_011516113.1:c.1014C>A	XP_011514415.1:p.Tyr338Ter
XM_011516114.1:c.843C>A	XP_011514416.1:p.Tyr281Ter
XR_927461.1:n.1601C>A
XM_005250297.4:c.1362C>A	XP_005250354.1:p.Tyr454Ter
XM_011516114.2:c.843C>A	XP_011514416.1:p.Tyr281Ter
XM_017012091.1:c.861C>A	XP_016867580.1:p.Tyr287Ter
XM_017012092.1:c.792C>A	XP_016867581.1:p.Tyr264Ter
XM_017012093.2:c.690C>A	XP_016867582.1:p.Tyr230Ter
XR_001744658.2:n.1322C>A
XR_001744659.2:n.1435C>A
XR_001744660.2:n.1367C>A
XR_001744661.2:n.1282C>A
XR_927461.3:n.1520C>A
NM_000181.4:c.1515C>A MANE Select	NP_000172.2:p.Tyr505Ter
NM_001284290.2:c.1077C>A	NP_001271219.1:p.Tyr359Ter
NM_001293104.2:c.945C>A	NP_001280033.1:p.Tyr315Ter
NM_001293105.2:c.858C>A	NP_001280034.1:p.Tyr286Ter
NR_120531.2:n.1460C>A