Canonical Allele Identifier: CA367637646

Gene: GUSB

Linked Data

• dbSNP Id: rs1790456542
• MyVariant Identifiers: chr7:g.65426033C>A (hg19) ; chr7:g.65961046C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961046C>A , CM000669.2:g.65961046C>A	GRCh38
NC_000007.13:g.65426033C>A , CM000669.1:g.65426033C>A	GRCh37
NC_000007.12:g.65063468C>A	NCBI36
NG_016197.1:g.26269G>T
NG_051954.1:g.92948C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1807G>T MANE Select	ENSP00000302728.4:p.Gly603Trp
ENST00000304895.8:c.1807G>T	ENSP00000302728.4:p.Gly603Trp
ENST00000421103.5:c.1369G>T	ENSP00000391390.1:p.Gly457Trp
ENST00000430730.5:c.*1074G>T	ENSP00000411859.1:n.*1074G>T
ENST00000447929.5:c.*1187G>T	ENSP00000411262.1:n.*1187G>T
ENST00000466883.5:n.2197G>T
NM_000181.3:c.1807G>T	NP_000172.2:p.Gly603Trp
NM_001284290.1:c.1369G>T	NP_001271219.1:p.Gly457Trp
NM_001293104.1:c.1237G>T	NP_001280033.1:p.Gly413Trp
NM_001293105.1:c.1150G>T	NP_001280034.1:p.Gly384Trp
NR_120531.1:n.1853G>T
XM_005250297.3:c.1654G>T	XP_005250354.1:p.Gly552Trp
XM_011516113.1:c.1306G>T	XP_011514415.1:p.Gly436Trp
XM_011516114.1:c.1135G>T	XP_011514416.1:p.Gly379Trp
XM_005250297.4:c.1654G>T	XP_005250354.1:p.Gly552Trp
XM_011516114.2:c.1135G>T	XP_011514416.1:p.Gly379Trp
XM_017012091.1:c.1153G>T	XP_016867580.1:p.Gly385Trp
XM_017012092.1:c.1084G>T	XP_016867581.1:p.Gly362Trp
XM_017012093.2:c.982G>T	XP_016867582.1:p.Gly328Trp
XR_001744658.2:n.1614G>T
XR_001744659.2:n.1727G>T
XR_001744660.2:n.1659G>T
XR_001744661.2:n.1574G>T
XR_927461.3:n.1812G>T
NM_000181.4:c.1807G>T MANE Select	NP_000172.2:p.Gly603Trp
NM_001284290.2:c.1369G>T	NP_001271219.1:p.Gly457Trp
NM_001293104.2:c.1237G>T	NP_001280033.1:p.Gly413Trp
NM_001293105.2:c.1150G>T	NP_001280034.1:p.Gly384Trp
NR_120531.2:n.1752G>T