Canonical Allele Identifier: CA367637162

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425942G>T (hg19) ; chr7:g.65960955G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960955G>T , CM000669.2:g.65960955G>T	GRCh38
NC_000007.13:g.65425942G>T , CM000669.1:g.65425942G>T	GRCh37
NC_000007.12:g.65063377G>T	NCBI36
NG_016197.1:g.26360C>A
NG_051954.1:g.92857G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1898C>A MANE Select	ENSP00000302728.4:p.Thr633Asn
ENST00000304895.8:c.1898C>A	ENSP00000302728.4:p.Thr633Asn
ENST00000421103.5:c.1460C>A	ENSP00000391390.1:p.Thr487Asn
ENST00000430730.5:c.*1165C>A	ENSP00000411859.1:n.*1165C>A
ENST00000447929.5:c.*1278C>A	ENSP00000411262.1:n.*1278C>A
ENST00000466883.5:n.2288C>A
NM_000181.3:c.1898C>A	NP_000172.2:p.Thr633Asn
NM_001284290.1:c.1460C>A	NP_001271219.1:p.Thr487Asn
NM_001293104.1:c.1328C>A	NP_001280033.1:p.Thr443Asn
NM_001293105.1:c.1241C>A	NP_001280034.1:p.Thr414Asn
NR_120531.1:n.1944C>A
XM_005250297.3:c.1745C>A	XP_005250354.1:p.Thr582Asn
XM_011516113.1:c.1397C>A	XP_011514415.1:p.Thr466Asn
XM_011516114.1:c.1226C>A	XP_011514416.1:p.Thr409Asn
XM_005250297.4:c.1745C>A	XP_005250354.1:p.Thr582Asn
XM_011516114.2:c.1226C>A	XP_011514416.1:p.Thr409Asn
XM_017012091.1:c.1244C>A	XP_016867580.1:p.Thr415Asn
XM_017012092.1:c.1175C>A	XP_016867581.1:p.Thr392Asn
XM_017012093.2:c.1073C>A	XP_016867582.1:p.Thr358Asn
XR_001744658.2:n.1705C>A
XR_001744659.2:n.1818C>A
XR_001744660.2:n.1750C>A
XR_001744661.2:n.1665C>A
XR_927461.3:n.1903C>A
NM_000181.4:c.1898C>A MANE Select	NP_000172.2:p.Thr633Asn
NM_001284290.2:c.1460C>A	NP_001271219.1:p.Thr487Asn
NM_001293104.2:c.1328C>A	NP_001280033.1:p.Thr443Asn
NM_001293105.2:c.1241C>A	NP_001280034.1:p.Thr414Asn
NR_120531.2:n.1843C>A