Canonical Allele Identifier: CA367637379

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425990C>T (hg19) ; chr7:g.65961003C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961003C>T , CM000669.2:g.65961003C>T	GRCh38
NC_000007.13:g.65425990C>T , CM000669.1:g.65425990C>T	GRCh37
NC_000007.12:g.65063425C>T	NCBI36
NG_016197.1:g.26312G>A
NG_051954.1:g.92905C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1850G>A MANE Select	ENSP00000302728.4:p.Ser617Asn
ENST00000304895.8:c.1850G>A	ENSP00000302728.4:p.Ser617Asn
ENST00000421103.5:c.1412G>A	ENSP00000391390.1:p.Ser471Asn
ENST00000430730.5:c.*1117G>A	ENSP00000411859.1:n.*1117G>A
ENST00000447929.5:c.*1230G>A	ENSP00000411262.1:n.*1230G>A
ENST00000466883.5:n.2240G>A
NM_000181.3:c.1850G>A	NP_000172.2:p.Ser617Asn
NM_001284290.1:c.1412G>A	NP_001271219.1:p.Ser471Asn
NM_001293104.1:c.1280G>A	NP_001280033.1:p.Ser427Asn
NM_001293105.1:c.1193G>A	NP_001280034.1:p.Ser398Asn
NR_120531.1:n.1896G>A
XM_005250297.3:c.1697G>A	XP_005250354.1:p.Ser566Asn
XM_011516113.1:c.1349G>A	XP_011514415.1:p.Ser450Asn
XM_011516114.1:c.1178G>A	XP_011514416.1:p.Ser393Asn
XM_005250297.4:c.1697G>A	XP_005250354.1:p.Ser566Asn
XM_011516114.2:c.1178G>A	XP_011514416.1:p.Ser393Asn
XM_017012091.1:c.1196G>A	XP_016867580.1:p.Ser399Asn
XM_017012092.1:c.1127G>A	XP_016867581.1:p.Ser376Asn
XM_017012093.2:c.1025G>A	XP_016867582.1:p.Ser342Asn
XR_001744658.2:n.1657G>A
XR_001744659.2:n.1770G>A
XR_001744660.2:n.1702G>A
XR_001744661.2:n.1617G>A
XR_927461.3:n.1855G>A
NM_000181.4:c.1850G>A MANE Select	NP_000172.2:p.Ser617Asn
NM_001284290.2:c.1412G>A	NP_001271219.1:p.Ser471Asn
NM_001293104.2:c.1280G>A	NP_001280033.1:p.Ser427Asn
NM_001293105.2:c.1193G>A	NP_001280034.1:p.Ser398Asn
NR_120531.2:n.1795G>A