Canonical Allele Identifier: CA367637311

Gene: GUSB

Linked Data

• ClinVar Variation Id: 2847045
• ClinVar RCV Id: RCV003602362
• MyVariant Identifiers: chr7:g.65425975A>T (hg19) ; chr7:g.65960988A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960988A>T , CM000669.2:g.65960988A>T	GRCh38
NC_000007.13:g.65425975A>T , CM000669.1:g.65425975A>T	GRCh37
NC_000007.12:g.65063410A>T	NCBI36
NG_016197.1:g.26327T>A
NG_051954.1:g.92890A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1865T>A MANE Select	ENSP00000302728.4:p.Leu622Ter
ENST00000304895.8:c.1865T>A	ENSP00000302728.4:p.Leu622Ter
ENST00000421103.5:c.1427T>A	ENSP00000391390.1:p.Leu476Ter
ENST00000430730.5:c.*1132T>A	ENSP00000411859.1:n.*1132T>A
ENST00000447929.5:c.*1245T>A	ENSP00000411262.1:n.*1245T>A
ENST00000466883.5:n.2255T>A
NM_000181.3:c.1865T>A	NP_000172.2:p.Leu622Ter
NM_001284290.1:c.1427T>A	NP_001271219.1:p.Leu476Ter
NM_001293104.1:c.1295T>A	NP_001280033.1:p.Leu432Ter
NM_001293105.1:c.1208T>A	NP_001280034.1:p.Leu403Ter
NR_120531.1:n.1911T>A
XM_005250297.3:c.1712T>A	XP_005250354.1:p.Leu571Ter
XM_011516113.1:c.1364T>A	XP_011514415.1:p.Leu455Ter
XM_011516114.1:c.1193T>A	XP_011514416.1:p.Leu398Ter
XM_005250297.4:c.1712T>A	XP_005250354.1:p.Leu571Ter
XM_011516114.2:c.1193T>A	XP_011514416.1:p.Leu398Ter
XM_017012091.1:c.1211T>A	XP_016867580.1:p.Leu404Ter
XM_017012092.1:c.1142T>A	XP_016867581.1:p.Leu381Ter
XM_017012093.2:c.1040T>A	XP_016867582.1:p.Leu347Ter
XR_001744658.2:n.1672T>A
XR_001744659.2:n.1785T>A
XR_001744660.2:n.1717T>A
XR_001744661.2:n.1632T>A
XR_927461.3:n.1870T>A
NM_000181.4:c.1865T>A MANE Select	NP_000172.2:p.Leu622Ter
NM_001284290.2:c.1427T>A	NP_001271219.1:p.Leu476Ter
NM_001293104.2:c.1295T>A	NP_001280033.1:p.Leu432Ter
NM_001293105.2:c.1208T>A	NP_001280034.1:p.Leu403Ter
NR_120531.2:n.1810T>A