Canonical Allele Identifier: CA367640599

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432894C>A (hg19) ; chr7:g.65967907C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967907C>A , CM000669.2:g.65967907C>A	GRCh38
NC_000007.13:g.65432894C>A , CM000669.1:g.65432894C>A	GRCh37
NC_000007.12:g.65070329C>A	NCBI36
NG_016197.1:g.19408G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1477G>T MANE Select	ENSP00000302728.4:p.Ala493Ser
ENST00000304895.8:c.1477G>T	ENSP00000302728.4:p.Ala493Ser
ENST00000421103.5:c.1039G>T	ENSP00000391390.1:p.Ala347Ser
ENST00000430730.5:c.*744G>T	ENSP00000411859.1:n.*744G>T
ENST00000447929.5:c.*857G>T	ENSP00000411262.1:n.*857G>T
ENST00000461622.1:n.2G>T
ENST00000462371.1:n.515G>T
ENST00000466883.5:n.1867G>T
NM_000181.3:c.1477G>T	NP_000172.2:p.Ala493Ser
NM_001284290.1:c.1039G>T	NP_001271219.1:p.Ala347Ser
NM_001293104.1:c.907G>T	NP_001280033.1:p.Ala303Ser
NM_001293105.1:c.820G>T	NP_001280034.1:p.Ala274Ser
NR_120531.1:n.1523G>T
XM_005250297.3:c.1324G>T	XP_005250354.1:p.Ala442Ser
XM_011516113.1:c.976G>T	XP_011514415.1:p.Ala326Ser
XM_011516114.1:c.805G>T	XP_011514416.1:p.Ala269Ser
XR_927461.1:n.1563G>T
XM_005250297.4:c.1324G>T	XP_005250354.1:p.Ala442Ser
XM_011516114.2:c.805G>T	XP_011514416.1:p.Ala269Ser
XM_017012091.1:c.823G>T	XP_016867580.1:p.Ala275Ser
XM_017012092.1:c.754G>T	XP_016867581.1:p.Ala252Ser
XM_017012093.2:c.652G>T	XP_016867582.1:p.Ala218Ser
XR_001744658.2:n.1284G>T
XR_001744659.2:n.1397G>T
XR_001744660.2:n.1329G>T
XR_001744661.2:n.1244G>T
XR_927461.3:n.1482G>T
NM_000181.4:c.1477G>T MANE Select	NP_000172.2:p.Ala493Ser
NM_001284290.2:c.1039G>T	NP_001271219.1:p.Ala347Ser
NM_001293104.2:c.907G>T	NP_001280033.1:p.Ala303Ser
NM_001293105.2:c.820G>T	NP_001280034.1:p.Ala274Ser
NR_120531.2:n.1422G>T