Canonical Allele Identifier: CA455440347

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65426031C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961044C>A , CM000669.2:g.65961044C>A	GRCh38
NC_000007.13:g.65426031C>A , CM000669.1:g.65426031C>A	GRCh37
NC_000007.12:g.65063466C>A	NCBI36
NG_016197.1:g.26271G>T
NG_051954.1:g.92946C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1809G>T MANE Select	ENSP00000302728.4:p.Gly603=
ENST00000304895.8:c.1809G>T	ENSP00000302728.4:p.Gly603=
ENST00000421103.5:c.1371G>T	ENSP00000391390.1:p.Gly457=
ENST00000430730.5:c.*1076G>T	ENSP00000411859.1:n.*1076G>T
ENST00000447929.5:c.*1189G>T	ENSP00000411262.1:n.*1189G>T
ENST00000466883.5:n.2199G>T
NM_000181.3:c.1809G>T	NP_000172.2:p.Gly603=
NM_001284290.1:c.1371G>T	NP_001271219.1:p.Gly457=
NM_001293104.1:c.1239G>T	NP_001280033.1:p.Gly413=
NM_001293105.1:c.1152G>T	NP_001280034.1:p.Gly384=
NR_120531.1:n.1855G>T
XM_005250297.3:c.1656G>T	XP_005250354.1:p.Gly552=
XM_011516113.1:c.1308G>T	XP_011514415.1:p.Gly436=
XM_011516114.1:c.1137G>T	XP_011514416.1:p.Gly379=
XM_005250297.4:c.1656G>T	XP_005250354.1:p.Gly552=
XM_011516114.2:c.1137G>T	XP_011514416.1:p.Gly379=
XM_017012091.1:c.1155G>T	XP_016867580.1:p.Gly385=
XM_017012092.1:c.1086G>T	XP_016867581.1:p.Gly362=
XM_017012093.2:c.984G>T	XP_016867582.1:p.Gly328=
XR_001744658.2:n.1616G>T
XR_001744659.2:n.1729G>T
XR_001744660.2:n.1661G>T
XR_001744661.2:n.1576G>T
XR_927461.3:n.1814G>T
NM_000181.4:c.1809G>T MANE Select	NP_000172.2:p.Gly603=
NM_001284290.2:c.1371G>T	NP_001271219.1:p.Gly457=
NM_001293104.2:c.1239G>T	NP_001280033.1:p.Gly413=
NM_001293105.2:c.1152G>T	NP_001280034.1:p.Gly384=
NR_120531.2:n.1754G>T