Canonical Allele Identifier: CA367637164

Gene: GUSB

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1898C>G MANE Select	ENSP00000302728.4:p.Thr633Ser
ENST00000304895.8:c.1898C>G	ENSP00000302728.4:p.Thr633Ser
ENST00000421103.5:c.1460C>G	ENSP00000391390.1:p.Thr487Ser
ENST00000430730.5:c.*1165C>G	ENSP00000411859.1:n.*1165C>G
ENST00000447929.5:c.*1278C>G	ENSP00000411262.1:n.*1278C>G
ENST00000466883.5:n.2288C>G
NM_000181.3:c.1898C>G	NP_000172.2:p.Thr633Ser
NM_001284290.1:c.1460C>G	NP_001271219.1:p.Thr487Ser
NM_001293104.1:c.1328C>G	NP_001280033.1:p.Thr443Ser
NM_001293105.1:c.1241C>G	NP_001280034.1:p.Thr414Ser
NR_120531.1:n.1944C>G
XM_005250297.3:c.1745C>G	XP_005250354.1:p.Thr582Ser
XM_011516113.1:c.1397C>G	XP_011514415.1:p.Thr466Ser
XM_011516114.1:c.1226C>G	XP_011514416.1:p.Thr409Ser
XM_005250297.4:c.1745C>G	XP_005250354.1:p.Thr582Ser
XM_011516114.2:c.1226C>G	XP_011514416.1:p.Thr409Ser
XM_017012091.1:c.1244C>G	XP_016867580.1:p.Thr415Ser
XM_017012092.1:c.1175C>G	XP_016867581.1:p.Thr392Ser
XM_017012093.2:c.1073C>G	XP_016867582.1:p.Thr358Ser
XR_001744658.2:n.1705C>G
XR_001744659.2:n.1818C>G
XR_001744660.2:n.1750C>G
XR_001744661.2:n.1665C>G
XR_927461.3:n.1903C>G
NM_000181.4:c.1898C>G MANE Select	NP_000172.2:p.Thr633Ser
NM_001284290.2:c.1460C>G	NP_001271219.1:p.Thr487Ser
NM_001293104.2:c.1328C>G	NP_001280033.1:p.Thr443Ser
NM_001293105.2:c.1241C>G	NP_001280034.1:p.Thr414Ser
NR_120531.2:n.1843C>G