Canonical Allele Identifier: CA367640381

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432855A>C (hg19) ; chr7:g.65967868A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967868A>C , CM000669.2:g.65967868A>C	GRCh38
NC_000007.13:g.65432855A>C , CM000669.1:g.65432855A>C	GRCh37
NC_000007.12:g.65070290A>C	NCBI36
NG_016197.1:g.19447T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1516T>G MANE Select	ENSP00000302728.4:p.Ser506Ala
ENST00000304895.8:c.1516T>G	ENSP00000302728.4:p.Ser506Ala
ENST00000421103.5:c.1078T>G	ENSP00000391390.1:p.Ser360Ala
ENST00000430730.5:c.*783T>G	ENSP00000411859.1:n.*783T>G
ENST00000447929.5:c.*896T>G	ENSP00000411262.1:n.*896T>G
ENST00000461622.1:n.41T>G
ENST00000462371.1:n.554T>G
ENST00000466883.5:n.1906T>G
NM_000181.3:c.1516T>G	NP_000172.2:p.Ser506Ala
NM_001284290.1:c.1078T>G	NP_001271219.1:p.Ser360Ala
NM_001293104.1:c.946T>G	NP_001280033.1:p.Ser316Ala
NM_001293105.1:c.859T>G	NP_001280034.1:p.Ser287Ala
NR_120531.1:n.1562T>G
XM_005250297.3:c.1363T>G	XP_005250354.1:p.Ser455Ala
XM_011516113.1:c.1015T>G	XP_011514415.1:p.Ser339Ala
XM_011516114.1:c.844T>G	XP_011514416.1:p.Ser282Ala
XR_927461.1:n.1602T>G
XM_005250297.4:c.1363T>G	XP_005250354.1:p.Ser455Ala
XM_011516114.2:c.844T>G	XP_011514416.1:p.Ser282Ala
XM_017012091.1:c.862T>G	XP_016867580.1:p.Ser288Ala
XM_017012092.1:c.793T>G	XP_016867581.1:p.Ser265Ala
XM_017012093.2:c.691T>G	XP_016867582.1:p.Ser231Ala
XR_001744658.2:n.1323T>G
XR_001744659.2:n.1436T>G
XR_001744660.2:n.1368T>G
XR_001744661.2:n.1283T>G
XR_927461.3:n.1521T>G
NM_000181.4:c.1516T>G MANE Select	NP_000172.2:p.Ser506Ala
NM_001284290.2:c.1078T>G	NP_001271219.1:p.Ser360Ala
NM_001293104.2:c.946T>G	NP_001280033.1:p.Ser316Ala
NM_001293105.2:c.859T>G	NP_001280034.1:p.Ser287Ala
NR_120531.2:n.1461T>G