Canonical Allele Identifier: CA4276246

Gene: GUSB

Linked Data

• dbSNP Id: rs747719992
• ExAC: 7:65432890 G / A
• gnomAD v2: 7-65432890-G-A
• gnomAD v3: 7-65967903-G-A
• gnomAD v4: 7-65967903-G-A
• MyVariant Identifiers: chr7:g.65432890G>A (hg19) ; chr7:g.65967903G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967903G>A , CM000669.2:g.65967903G>A	GRCh38
NC_000007.13:g.65432890G>A , CM000669.1:g.65432890G>A	GRCh37
NC_000007.12:g.65070325G>A	NCBI36
NG_016197.1:g.19412C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1481C>T MANE Select	ENSP00000302728.4:p.Pro494Leu
ENST00000304895.8:c.1481C>T	ENSP00000302728.4:p.Pro494Leu
ENST00000421103.5:c.1043C>T	ENSP00000391390.1:p.Pro348Leu
ENST00000430730.5:c.*748C>T	ENSP00000411859.1:n.*748C>T
ENST00000447929.5:c.*861C>T	ENSP00000411262.1:n.*861C>T
ENST00000461622.1:n.6C>T
ENST00000462371.1:n.519C>T
ENST00000466883.5:n.1871C>T
NM_000181.3:c.1481C>T	NP_000172.2:p.Pro494Leu
NM_001284290.1:c.1043C>T	NP_001271219.1:p.Pro348Leu
NM_001293104.1:c.911C>T	NP_001280033.1:p.Pro304Leu
NM_001293105.1:c.824C>T	NP_001280034.1:p.Pro275Leu
NR_120531.1:n.1527C>T
XM_005250297.3:c.1328C>T	XP_005250354.1:p.Pro443Leu
XM_011516113.1:c.980C>T	XP_011514415.1:p.Pro327Leu
XM_011516114.1:c.809C>T	XP_011514416.1:p.Pro270Leu
XR_927461.1:n.1567C>T
XM_005250297.4:c.1328C>T	XP_005250354.1:p.Pro443Leu
XM_011516114.2:c.809C>T	XP_011514416.1:p.Pro270Leu
XM_017012091.1:c.827C>T	XP_016867580.1:p.Pro276Leu
XM_017012092.1:c.758C>T	XP_016867581.1:p.Pro253Leu
XM_017012093.2:c.656C>T	XP_016867582.1:p.Pro219Leu
XR_001744658.2:n.1288C>T
XR_001744659.2:n.1401C>T
XR_001744660.2:n.1333C>T
XR_001744661.2:n.1248C>T
XR_927461.3:n.1486C>T
NM_000181.4:c.1481C>T MANE Select	NP_000172.2:p.Pro494Leu
NM_001284290.2:c.1043C>T	NP_001271219.1:p.Pro348Leu
NM_001293104.2:c.911C>T	NP_001280033.1:p.Pro304Leu
NM_001293105.2:c.824C>T	NP_001280034.1:p.Pro275Leu
NR_120531.2:n.1426C>T