Canonical Allele Identifier: CA367637007

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425906A>C (hg19) ; chr7:g.65960919A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960919A>C , CM000669.2:g.65960919A>C	GRCh38
NC_000007.13:g.65425906A>C , CM000669.1:g.65425906A>C	GRCh37
NC_000007.12:g.65063341A>C	NCBI36
NG_016197.1:g.26396T>G
NG_051954.1:g.92821A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1934T>G MANE Select	ENSP00000302728.4:p.Leu645Trp
ENST00000304895.8:c.1934T>G	ENSP00000302728.4:p.Leu645Trp
ENST00000421103.5:c.1496T>G	ENSP00000391390.1:p.Leu499Trp
ENST00000430730.5:c.*1201T>G	ENSP00000411859.1:n.*1201T>G
ENST00000447929.5:c.*1314T>G	ENSP00000411262.1:n.*1314T>G
ENST00000466883.5:n.2324T>G
NM_000181.3:c.1934T>G	NP_000172.2:p.Leu645Trp
NM_001284290.1:c.1496T>G	NP_001271219.1:p.Leu499Trp
NM_001293104.1:c.1364T>G	NP_001280033.1:p.Leu455Trp
NM_001293105.1:c.1277T>G	NP_001280034.1:p.Leu426Trp
NR_120531.1:n.1980T>G
XM_005250297.3:c.1781T>G	XP_005250354.1:p.Leu594Trp
XM_011516113.1:c.1433T>G	XP_011514415.1:p.Leu478Trp
XM_011516114.1:c.1262T>G	XP_011514416.1:p.Leu421Trp
XM_005250297.4:c.1781T>G	XP_005250354.1:p.Leu594Trp
XM_011516114.2:c.1262T>G	XP_011514416.1:p.Leu421Trp
XM_017012091.1:c.1280T>G	XP_016867580.1:p.Leu427Trp
XM_017012092.1:c.1211T>G	XP_016867581.1:p.Leu404Trp
XM_017012093.2:c.1109T>G	XP_016867582.1:p.Leu370Trp
XR_001744658.2:n.1741T>G
XR_001744659.2:n.1854T>G
XR_001744660.2:n.1786T>G
XR_001744661.2:n.1701T>G
XR_927461.3:n.1939T>G
NM_000181.4:c.1934T>G MANE Select	NP_000172.2:p.Leu645Trp
NM_001284290.2:c.1496T>G	NP_001271219.1:p.Leu499Trp
NM_001293104.2:c.1364T>G	NP_001280033.1:p.Leu455Trp
NM_001293105.2:c.1277T>G	NP_001280034.1:p.Leu426Trp
NR_120531.2:n.1879T>G