Canonical Allele Identifier: CA455439336

Gene: GUSB

Linked Data

• gnomAD v4: 7-65960920-A-G
• MyVariant Identifiers: chr7:g.65425907A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960920A>G , CM000669.2:g.65960920A>G	GRCh38
NC_000007.13:g.65425907A>G , CM000669.1:g.65425907A>G	GRCh37
NC_000007.12:g.65063342A>G	NCBI36
NG_016197.1:g.26395T>C
NG_051954.1:g.92822A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1933T>C MANE Select	ENSP00000302728.4:p.Leu645=
ENST00000304895.8:c.1933T>C	ENSP00000302728.4:p.Leu645=
ENST00000421103.5:c.1495T>C	ENSP00000391390.1:p.Leu499=
ENST00000430730.5:c.*1200T>C	ENSP00000411859.1:n.*1200T>C
ENST00000447929.5:c.*1313T>C	ENSP00000411262.1:n.*1313T>C
ENST00000466883.5:n.2323T>C
NM_000181.3:c.1933T>C	NP_000172.2:p.Leu645=
NM_001284290.1:c.1495T>C	NP_001271219.1:p.Leu499=
NM_001293104.1:c.1363T>C	NP_001280033.1:p.Leu455=
NM_001293105.1:c.1276T>C	NP_001280034.1:p.Leu426=
NR_120531.1:n.1979T>C
XM_005250297.3:c.1780T>C	XP_005250354.1:p.Leu594=
XM_011516113.1:c.1432T>C	XP_011514415.1:p.Leu478=
XM_011516114.1:c.1261T>C	XP_011514416.1:p.Leu421=
XM_005250297.4:c.1780T>C	XP_005250354.1:p.Leu594=
XM_011516114.2:c.1261T>C	XP_011514416.1:p.Leu421=
XM_017012091.1:c.1279T>C	XP_016867580.1:p.Leu427=
XM_017012092.1:c.1210T>C	XP_016867581.1:p.Leu404=
XM_017012093.2:c.1108T>C	XP_016867582.1:p.Leu370=
XR_001744658.2:n.1740T>C
XR_001744659.2:n.1853T>C
XR_001744660.2:n.1785T>C
XR_001744661.2:n.1700T>C
XR_927461.3:n.1938T>C
NM_000181.4:c.1933T>C MANE Select	NP_000172.2:p.Leu645=
NM_001284290.2:c.1495T>C	NP_001271219.1:p.Leu499=
NM_001293104.2:c.1363T>C	NP_001280033.1:p.Leu455=
NM_001293105.2:c.1276T>C	NP_001280034.1:p.Leu426=
NR_120531.2:n.1878T>C