Canonical Allele Identifier: CA367640177

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432817C>A (hg19) ; chr7:g.65967830C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967830C>A , CM000669.2:g.65967830C>A	GRCh38
NC_000007.13:g.65432817C>A , CM000669.1:g.65432817C>A	GRCh37
NC_000007.12:g.65070252C>A	NCBI36
NG_016197.1:g.19485G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1554G>T MANE Select	ENSP00000302728.4:p.Gln518His
ENST00000304895.8:c.1554G>T	ENSP00000302728.4:p.Gln518His
ENST00000421103.5:c.1116G>T	ENSP00000391390.1:p.Gln372His
ENST00000430730.5:c.*821G>T	ENSP00000411859.1:n.*821G>T
ENST00000447929.5:c.*934G>T	ENSP00000411262.1:n.*934G>T
ENST00000461622.1:n.79G>T
ENST00000462371.1:n.592G>T
ENST00000466883.5:n.1944G>T
NM_000181.3:c.1554G>T	NP_000172.2:p.Gln518His
NM_001284290.1:c.1116G>T	NP_001271219.1:p.Gln372His
NM_001293104.1:c.984G>T	NP_001280033.1:p.Gln328His
NM_001293105.1:c.897G>T	NP_001280034.1:p.Gln299His
NR_120531.1:n.1600G>T
XM_005250297.3:c.1401G>T	XP_005250354.1:p.Gln467His
XM_011516113.1:c.1053G>T	XP_011514415.1:p.Gln351His
XM_011516114.1:c.882G>T	XP_011514416.1:p.Gln294His
XR_927461.1:n.1640G>T
XM_005250297.4:c.1401G>T	XP_005250354.1:p.Gln467His
XM_011516114.2:c.882G>T	XP_011514416.1:p.Gln294His
XM_017012091.1:c.900G>T	XP_016867580.1:p.Gln300His
XM_017012092.1:c.831G>T	XP_016867581.1:p.Gln277His
XM_017012093.2:c.729G>T	XP_016867582.1:p.Gln243His
XR_001744658.2:n.1361G>T
XR_001744659.2:n.1474G>T
XR_001744660.2:n.1406G>T
XR_001744661.2:n.1321G>T
XR_927461.3:n.1559G>T
NM_000181.4:c.1554G>T MANE Select	NP_000172.2:p.Gln518His
NM_001284290.2:c.1116G>T	NP_001271219.1:p.Gln372His
NM_001293104.2:c.984G>T	NP_001280033.1:p.Gln328His
NM_001293105.2:c.897G>T	NP_001280034.1:p.Gln299His
NR_120531.2:n.1499G>T