Canonical Allele Identifier: CA455439227

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425890A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960903A>G , CM000669.2:g.65960903A>G	GRCh38
NC_000007.13:g.65425890A>G , CM000669.1:g.65425890A>G	GRCh37
NC_000007.12:g.65063325A>G	NCBI36
NG_016197.1:g.26412T>C
NG_051954.1:g.92805A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1950T>C MANE Select	ENSP00000302728.4:p.Phe650=
ENST00000304895.8:c.1950T>C	ENSP00000302728.4:p.Phe650=
ENST00000421103.5:c.1512T>C	ENSP00000391390.1:p.Phe504=
ENST00000430730.5:c.*1217T>C	ENSP00000411859.1:n.*1217T>C
ENST00000447929.5:c.*1330T>C	ENSP00000411262.1:n.*1330T>C
ENST00000466883.5:n.2340T>C
NM_000181.3:c.1950T>C	NP_000172.2:p.Phe650=
NM_001284290.1:c.1512T>C	NP_001271219.1:p.Phe504=
NM_001293104.1:c.1380T>C	NP_001280033.1:p.Phe460=
NM_001293105.1:c.1293T>C	NP_001280034.1:p.Phe431=
NR_120531.1:n.1996T>C
XM_005250297.3:c.1797T>C	XP_005250354.1:p.Phe599=
XM_011516113.1:c.1449T>C	XP_011514415.1:p.Phe483=
XM_011516114.1:c.1278T>C	XP_011514416.1:p.Phe426=
XM_005250297.4:c.1797T>C	XP_005250354.1:p.Phe599=
XM_011516114.2:c.1278T>C	XP_011514416.1:p.Phe426=
XM_017012091.1:c.1296T>C	XP_016867580.1:p.Phe432=
XM_017012092.1:c.1227T>C	XP_016867581.1:p.Phe409=
XM_017012093.2:c.1125T>C	XP_016867582.1:p.Phe375=
XR_001744658.2:n.1757T>C
XR_001744659.2:n.1870T>C
XR_001744660.2:n.1802T>C
XR_001744661.2:n.1717T>C
XR_927461.3:n.1955T>C
NM_000181.4:c.1950T>C MANE Select	NP_000172.2:p.Phe650=
NM_001284290.2:c.1512T>C	NP_001271219.1:p.Phe504=
NM_001293104.2:c.1380T>C	NP_001280033.1:p.Phe460=
NM_001293105.2:c.1293T>C	NP_001280034.1:p.Phe431=
NR_120531.2:n.1895T>C