Canonical Allele Identifier: CA4276155

Gene: GUSB

Linked Data

• dbSNP Id: rs775873162
• ExAC: 7:65425990 C / A
• gnomAD v2: 7-65425990-C-A
• gnomAD v4: 7-65961003-C-A
• MyVariant Identifiers: chr7:g.65425990C>A (hg19) ; chr7:g.65961003C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961003C>A , CM000669.2:g.65961003C>A	GRCh38
NC_000007.13:g.65425990C>A , CM000669.1:g.65425990C>A	GRCh37
NC_000007.12:g.65063425C>A	NCBI36
NG_016197.1:g.26312G>T
NG_051954.1:g.92905C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1850G>T MANE Select	ENSP00000302728.4:p.Ser617Ile
ENST00000304895.8:c.1850G>T	ENSP00000302728.4:p.Ser617Ile
ENST00000421103.5:c.1412G>T	ENSP00000391390.1:p.Ser471Ile
ENST00000430730.5:c.*1117G>T	ENSP00000411859.1:n.*1117G>T
ENST00000447929.5:c.*1230G>T	ENSP00000411262.1:n.*1230G>T
ENST00000466883.5:n.2240G>T
NM_000181.3:c.1850G>T	NP_000172.2:p.Ser617Ile
NM_001284290.1:c.1412G>T	NP_001271219.1:p.Ser471Ile
NM_001293104.1:c.1280G>T	NP_001280033.1:p.Ser427Ile
NM_001293105.1:c.1193G>T	NP_001280034.1:p.Ser398Ile
NR_120531.1:n.1896G>T
XM_005250297.3:c.1697G>T	XP_005250354.1:p.Ser566Ile
XM_011516113.1:c.1349G>T	XP_011514415.1:p.Ser450Ile
XM_011516114.1:c.1178G>T	XP_011514416.1:p.Ser393Ile
XM_005250297.4:c.1697G>T	XP_005250354.1:p.Ser566Ile
XM_011516114.2:c.1178G>T	XP_011514416.1:p.Ser393Ile
XM_017012091.1:c.1196G>T	XP_016867580.1:p.Ser399Ile
XM_017012092.1:c.1127G>T	XP_016867581.1:p.Ser376Ile
XM_017012093.2:c.1025G>T	XP_016867582.1:p.Ser342Ile
XR_001744658.2:n.1657G>T
XR_001744659.2:n.1770G>T
XR_001744660.2:n.1702G>T
XR_001744661.2:n.1617G>T
XR_927461.3:n.1855G>T
NM_000181.4:c.1850G>T MANE Select	NP_000172.2:p.Ser617Ile
NM_001284290.2:c.1412G>T	NP_001271219.1:p.Ser471Ile
NM_001293104.2:c.1280G>T	NP_001280033.1:p.Ser427Ile
NM_001293105.2:c.1193G>T	NP_001280034.1:p.Ser398Ile
NR_120531.2:n.1795G>T