Canonical Allele Identifier: CA367636963

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425897C>A (hg19) ; chr7:g.65960910C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960910C>A , CM000669.2:g.65960910C>A	GRCh38
NC_000007.13:g.65425897C>A , CM000669.1:g.65425897C>A	GRCh37
NC_000007.12:g.65063332C>A	NCBI36
NG_016197.1:g.26405G>T
NG_051954.1:g.92812C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1943G>T MANE Select	ENSP00000302728.4:p.Ser648Ile
ENST00000304895.8:c.1943G>T	ENSP00000302728.4:p.Ser648Ile
ENST00000421103.5:c.1505G>T	ENSP00000391390.1:p.Ser502Ile
ENST00000430730.5:c.*1210G>T	ENSP00000411859.1:n.*1210G>T
ENST00000447929.5:c.*1323G>T	ENSP00000411262.1:n.*1323G>T
ENST00000466883.5:n.2333G>T
NM_000181.3:c.1943G>T	NP_000172.2:p.Ser648Ile
NM_001284290.1:c.1505G>T	NP_001271219.1:p.Ser502Ile
NM_001293104.1:c.1373G>T	NP_001280033.1:p.Ser458Ile
NM_001293105.1:c.1286G>T	NP_001280034.1:p.Ser429Ile
NR_120531.1:n.1989G>T
XM_005250297.3:c.1790G>T	XP_005250354.1:p.Ser597Ile
XM_011516113.1:c.1442G>T	XP_011514415.1:p.Ser481Ile
XM_011516114.1:c.1271G>T	XP_011514416.1:p.Ser424Ile
XM_005250297.4:c.1790G>T	XP_005250354.1:p.Ser597Ile
XM_011516114.2:c.1271G>T	XP_011514416.1:p.Ser424Ile
XM_017012091.1:c.1289G>T	XP_016867580.1:p.Ser430Ile
XM_017012092.1:c.1220G>T	XP_016867581.1:p.Ser407Ile
XM_017012093.2:c.1118G>T	XP_016867582.1:p.Ser373Ile
XR_001744658.2:n.1750G>T
XR_001744659.2:n.1863G>T
XR_001744660.2:n.1795G>T
XR_001744661.2:n.1710G>T
XR_927461.3:n.1948G>T
NM_000181.4:c.1943G>T MANE Select	NP_000172.2:p.Ser648Ile
NM_001284290.2:c.1505G>T	NP_001271219.1:p.Ser502Ile
NM_001293104.2:c.1373G>T	NP_001280033.1:p.Ser458Ile
NM_001293105.2:c.1286G>T	NP_001280034.1:p.Ser429Ile
NR_120531.2:n.1888G>T