Canonical Allele Identifier: CA455442434

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432724A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967737A>G , CM000669.2:g.65967737A>G	GRCh38
NC_000007.13:g.65432724A>G , CM000669.1:g.65432724A>G	GRCh37
NC_000007.12:g.65070159A>G	NCBI36
NG_016197.1:g.19578T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1647T>C MANE Select	ENSP00000302728.4:p.Phe549=
ENST00000304895.8:c.1647T>C	ENSP00000302728.4:p.Phe549=
ENST00000421103.5:c.1209T>C	ENSP00000391390.1:p.Phe403=
ENST00000430730.5:c.*914T>C	ENSP00000411859.1:n.*914T>C
ENST00000447929.5:c.*1027T>C	ENSP00000411262.1:n.*1027T>C
ENST00000461622.1:n.172T>C
ENST00000462371.1:n.685T>C
ENST00000466883.5:n.2037T>C
NM_000181.3:c.1647T>C	NP_000172.2:p.Phe549=
NM_001284290.1:c.1209T>C	NP_001271219.1:p.Phe403=
NM_001293104.1:c.1077T>C	NP_001280033.1:p.Phe359=
NM_001293105.1:c.990T>C	NP_001280034.1:p.Phe330=
NR_120531.1:n.1693T>C
XM_005250297.3:c.1494T>C	XP_005250354.1:p.Phe498=
XM_011516113.1:c.1146T>C	XP_011514415.1:p.Phe382=
XM_011516114.1:c.975T>C	XP_011514416.1:p.Phe325=
XR_927461.1:n.1733T>C
XM_005250297.4:c.1494T>C	XP_005250354.1:p.Phe498=
XM_011516114.2:c.975T>C	XP_011514416.1:p.Phe325=
XM_017012091.1:c.993T>C	XP_016867580.1:p.Phe331=
XM_017012092.1:c.924T>C	XP_016867581.1:p.Phe308=
XM_017012093.2:c.822T>C	XP_016867582.1:p.Phe274=
XR_001744658.2:n.1454T>C
XR_001744659.2:n.1567T>C
XR_001744660.2:n.1499T>C
XR_001744661.2:n.1414T>C
XR_927461.3:n.1652T>C
NM_000181.4:c.1647T>C MANE Select	NP_000172.2:p.Phe549=
NM_001284290.2:c.1209T>C	NP_001271219.1:p.Phe403=
NM_001293104.2:c.1077T>C	NP_001280033.1:p.Phe359=
NM_001293105.2:c.990T>C	NP_001280034.1:p.Phe330=
NR_120531.2:n.1592T>C