Canonical Allele Identifier: CA455439641

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425953A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960966A>G , CM000669.2:g.65960966A>G	GRCh38
NC_000007.13:g.65425953A>G , CM000669.1:g.65425953A>G	GRCh37
NC_000007.12:g.65063388A>G	NCBI36
NG_016197.1:g.26349T>C
NG_051954.1:g.92868A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1887T>C MANE Select	ENSP00000302728.4:p.Ile629=
ENST00000304895.8:c.1887T>C	ENSP00000302728.4:p.Ile629=
ENST00000421103.5:c.1449T>C	ENSP00000391390.1:p.Ile483=
ENST00000430730.5:c.*1154T>C	ENSP00000411859.1:n.*1154T>C
ENST00000447929.5:c.*1267T>C	ENSP00000411262.1:n.*1267T>C
ENST00000466883.5:n.2277T>C
NM_000181.3:c.1887T>C	NP_000172.2:p.Ile629=
NM_001284290.1:c.1449T>C	NP_001271219.1:p.Ile483=
NM_001293104.1:c.1317T>C	NP_001280033.1:p.Ile439=
NM_001293105.1:c.1230T>C	NP_001280034.1:p.Ile410=
NR_120531.1:n.1933T>C
XM_005250297.3:c.1734T>C	XP_005250354.1:p.Ile578=
XM_011516113.1:c.1386T>C	XP_011514415.1:p.Ile462=
XM_011516114.1:c.1215T>C	XP_011514416.1:p.Ile405=
XM_005250297.4:c.1734T>C	XP_005250354.1:p.Ile578=
XM_011516114.2:c.1215T>C	XP_011514416.1:p.Ile405=
XM_017012091.1:c.1233T>C	XP_016867580.1:p.Ile411=
XM_017012092.1:c.1164T>C	XP_016867581.1:p.Ile388=
XM_017012093.2:c.1062T>C	XP_016867582.1:p.Ile354=
XR_001744658.2:n.1694T>C
XR_001744659.2:n.1807T>C
XR_001744660.2:n.1739T>C
XR_001744661.2:n.1654T>C
XR_927461.3:n.1892T>C
NM_000181.4:c.1887T>C MANE Select	NP_000172.2:p.Ile629=
NM_001284290.2:c.1449T>C	NP_001271219.1:p.Ile483=
NM_001293104.2:c.1317T>C	NP_001280033.1:p.Ile439=
NM_001293105.2:c.1230T>C	NP_001280034.1:p.Ile410=
NR_120531.2:n.1832T>C