Canonical Allele Identifier: CA367637616

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65426028A>C (hg19) ; chr7:g.65961041A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961041A>C , CM000669.2:g.65961041A>C	GRCh38
NC_000007.13:g.65426028A>C , CM000669.1:g.65426028A>C	GRCh37
NC_000007.12:g.65063463A>C	NCBI36
NG_016197.1:g.26274T>G
NG_051954.1:g.92943A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1812T>G MANE Select	ENSP00000302728.4:p.Asn604Lys
ENST00000304895.8:c.1812T>G	ENSP00000302728.4:p.Asn604Lys
ENST00000421103.5:c.1374T>G	ENSP00000391390.1:p.Asn458Lys
ENST00000430730.5:c.*1079T>G	ENSP00000411859.1:n.*1079T>G
ENST00000447929.5:c.*1192T>G	ENSP00000411262.1:n.*1192T>G
ENST00000466883.5:n.2202T>G
NM_000181.3:c.1812T>G	NP_000172.2:p.Asn604Lys
NM_001284290.1:c.1374T>G	NP_001271219.1:p.Asn458Lys
NM_001293104.1:c.1242T>G	NP_001280033.1:p.Asn414Lys
NM_001293105.1:c.1155T>G	NP_001280034.1:p.Asn385Lys
NR_120531.1:n.1858T>G
XM_005250297.3:c.1659T>G	XP_005250354.1:p.Asn553Lys
XM_011516113.1:c.1311T>G	XP_011514415.1:p.Asn437Lys
XM_011516114.1:c.1140T>G	XP_011514416.1:p.Asn380Lys
XM_005250297.4:c.1659T>G	XP_005250354.1:p.Asn553Lys
XM_011516114.2:c.1140T>G	XP_011514416.1:p.Asn380Lys
XM_017012091.1:c.1158T>G	XP_016867580.1:p.Asn386Lys
XM_017012092.1:c.1089T>G	XP_016867581.1:p.Asn363Lys
XM_017012093.2:c.987T>G	XP_016867582.1:p.Asn329Lys
XR_001744658.2:n.1619T>G
XR_001744659.2:n.1732T>G
XR_001744660.2:n.1664T>G
XR_001744661.2:n.1579T>G
XR_927461.3:n.1817T>G
NM_000181.4:c.1812T>G MANE Select	NP_000172.2:p.Asn604Lys
NM_001284290.2:c.1374T>G	NP_001271219.1:p.Asn458Lys
NM_001293104.2:c.1242T>G	NP_001280033.1:p.Asn414Lys
NM_001293105.2:c.1155T>G	NP_001280034.1:p.Asn385Lys
NR_120531.2:n.1757T>G