Canonical Allele Identifier: CA455442485

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432808C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967821C>G , CM000669.2:g.65967821C>G	GRCh38
NC_000007.13:g.65432808C>G , CM000669.1:g.65432808C>G	GRCh37
NC_000007.12:g.65070243C>G	NCBI36
NG_016197.1:g.19494G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1563G>C MANE Select	ENSP00000302728.4:p.Leu521=
ENST00000304895.8:c.1563G>C	ENSP00000302728.4:p.Leu521=
ENST00000421103.5:c.1125G>C	ENSP00000391390.1:p.Leu375=
ENST00000430730.5:c.*830G>C	ENSP00000411859.1:n.*830G>C
ENST00000447929.5:c.*943G>C	ENSP00000411262.1:n.*943G>C
ENST00000461622.1:n.88G>C
ENST00000462371.1:n.601G>C
ENST00000466883.5:n.1953G>C
NM_000181.3:c.1563G>C	NP_000172.2:p.Leu521=
NM_001284290.1:c.1125G>C	NP_001271219.1:p.Leu375=
NM_001293104.1:c.993G>C	NP_001280033.1:p.Leu331=
NM_001293105.1:c.906G>C	NP_001280034.1:p.Leu302=
NR_120531.1:n.1609G>C
XM_005250297.3:c.1410G>C	XP_005250354.1:p.Leu470=
XM_011516113.1:c.1062G>C	XP_011514415.1:p.Leu354=
XM_011516114.1:c.891G>C	XP_011514416.1:p.Leu297=
XR_927461.1:n.1649G>C
XM_005250297.4:c.1410G>C	XP_005250354.1:p.Leu470=
XM_011516114.2:c.891G>C	XP_011514416.1:p.Leu297=
XM_017012091.1:c.909G>C	XP_016867580.1:p.Leu303=
XM_017012092.1:c.840G>C	XP_016867581.1:p.Leu280=
XM_017012093.2:c.738G>C	XP_016867582.1:p.Leu246=
XR_001744658.2:n.1370G>C
XR_001744659.2:n.1483G>C
XR_001744660.2:n.1415G>C
XR_001744661.2:n.1330G>C
XR_927461.3:n.1568G>C
NM_000181.4:c.1563G>C MANE Select	NP_000172.2:p.Leu521=
NM_001284290.2:c.1125G>C	NP_001271219.1:p.Leu375=
NM_001293104.2:c.993G>C	NP_001280033.1:p.Leu331=
NM_001293105.2:c.906G>C	NP_001280034.1:p.Leu302=
NR_120531.2:n.1508G>C