Canonical Allele Identifier: CA367636914

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425885C>A (hg19) ; chr7:g.65960898C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960898C>A , CM000669.2:g.65960898C>A	GRCh38
NC_000007.13:g.65425885C>A , CM000669.1:g.65425885C>A	GRCh37
NC_000007.12:g.65063320C>A	NCBI36
NG_016197.1:g.26417G>T
NG_051954.1:g.92800C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1955G>T MANE Select	ENSP00000302728.4:p.Ter652Leu
ENST00000304895.8:c.1955G>T	ENSP00000302728.4:p.Ter652Leu
ENST00000421103.5:c.1517G>T	ENSP00000391390.1:p.Ter506Leu
ENST00000430730.5:c.*1222G>T	ENSP00000411859.1:n.*1222G>T
ENST00000447929.5:c.*1335G>T	ENSP00000411262.1:n.*1335G>T
ENST00000466883.5:n.2345G>T
NM_000181.3:c.1955G>T	NP_000172.2:p.Ter652Leu
NM_001284290.1:c.1517G>T	NP_001271219.1:p.Ter506Leu
NM_001293104.1:c.1385G>T	NP_001280033.1:p.Ter462Leu
NM_001293105.1:c.1298G>T	NP_001280034.1:p.Ter433Leu
NR_120531.1:n.2001G>T
XM_005250297.3:c.1802G>T	XP_005250354.1:p.Ter601Leu
XM_011516113.1:c.1454G>T	XP_011514415.1:p.Ter485Leu
XM_011516114.1:c.1283G>T	XP_011514416.1:p.Ter428Leu
XM_005250297.4:c.1802G>T	XP_005250354.1:p.Ter601Leu
XM_011516114.2:c.1283G>T	XP_011514416.1:p.Ter428Leu
XM_017012091.1:c.1301G>T	XP_016867580.1:p.Ter434Leu
XM_017012092.1:c.1232G>T	XP_016867581.1:p.Ter411Leu
XM_017012093.2:c.1130G>T	XP_016867582.1:p.Ter377Leu
XR_001744658.2:n.1762G>T
XR_001744659.2:n.1875G>T
XR_001744660.2:n.1807G>T
XR_001744661.2:n.1722G>T
XR_927461.3:n.1960G>T
NM_000181.4:c.1955G>T MANE Select	NP_000172.2:p.Ter652Leu
NM_001284290.2:c.1517G>T	NP_001271219.1:p.Ter506Leu
NM_001293104.2:c.1385G>T	NP_001280033.1:p.Ter462Leu
NM_001293105.2:c.1298G>T	NP_001280034.1:p.Ter433Leu
NR_120531.2:n.1900G>T