Canonical Allele Identifier: CA455440108

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65426007C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961020C>G , CM000669.2:g.65961020C>G	GRCh38
NC_000007.13:g.65426007C>G , CM000669.1:g.65426007C>G	GRCh37
NC_000007.12:g.65063442C>G	NCBI36
NG_016197.1:g.26295G>C
NG_051954.1:g.92922C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1833G>C MANE Select	ENSP00000302728.4:p.Arg611=
ENST00000304895.8:c.1833G>C	ENSP00000302728.4:p.Arg611=
ENST00000421103.5:c.1395G>C	ENSP00000391390.1:p.Arg465=
ENST00000430730.5:c.*1100G>C	ENSP00000411859.1:n.*1100G>C
ENST00000447929.5:c.*1213G>C	ENSP00000411262.1:n.*1213G>C
ENST00000466883.5:n.2223G>C
NM_000181.3:c.1833G>C	NP_000172.2:p.Arg611=
NM_001284290.1:c.1395G>C	NP_001271219.1:p.Arg465=
NM_001293104.1:c.1263G>C	NP_001280033.1:p.Arg421=
NM_001293105.1:c.1176G>C	NP_001280034.1:p.Arg392=
NR_120531.1:n.1879G>C
XM_005250297.3:c.1680G>C	XP_005250354.1:p.Arg560=
XM_011516113.1:c.1332G>C	XP_011514415.1:p.Arg444=
XM_011516114.1:c.1161G>C	XP_011514416.1:p.Arg387=
XM_005250297.4:c.1680G>C	XP_005250354.1:p.Arg560=
XM_011516114.2:c.1161G>C	XP_011514416.1:p.Arg387=
XM_017012091.1:c.1179G>C	XP_016867580.1:p.Arg393=
XM_017012092.1:c.1110G>C	XP_016867581.1:p.Arg370=
XM_017012093.2:c.1008G>C	XP_016867582.1:p.Arg336=
XR_001744658.2:n.1640G>C
XR_001744659.2:n.1753G>C
XR_001744660.2:n.1685G>C
XR_001744661.2:n.1600G>C
XR_927461.3:n.1838G>C
NM_000181.4:c.1833G>C MANE Select	NP_000172.2:p.Arg611=
NM_001284290.2:c.1395G>C	NP_001271219.1:p.Arg465=
NM_001293104.2:c.1263G>C	NP_001280033.1:p.Arg421=
NM_001293105.2:c.1176G>C	NP_001280034.1:p.Arg392=
NR_120531.2:n.1778G>C