Canonical Allele Identifier: CA367637534

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65426017A>T (hg19) ; chr7:g.65961030A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961030A>T , CM000669.2:g.65961030A>T	GRCh38
NC_000007.13:g.65426017A>T , CM000669.1:g.65426017A>T	GRCh37
NC_000007.12:g.65063452A>T	NCBI36
NG_016197.1:g.26285T>A
NG_051954.1:g.92932A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1823T>A MANE Select	ENSP00000302728.4:p.Ile608Asn
ENST00000304895.8:c.1823T>A	ENSP00000302728.4:p.Ile608Asn
ENST00000421103.5:c.1385T>A	ENSP00000391390.1:p.Ile462Asn
ENST00000430730.5:c.*1090T>A	ENSP00000411859.1:n.*1090T>A
ENST00000447929.5:c.*1203T>A	ENSP00000411262.1:n.*1203T>A
ENST00000466883.5:n.2213T>A
NM_000181.3:c.1823T>A	NP_000172.2:p.Ile608Asn
NM_001284290.1:c.1385T>A	NP_001271219.1:p.Ile462Asn
NM_001293104.1:c.1253T>A	NP_001280033.1:p.Ile418Asn
NM_001293105.1:c.1166T>A	NP_001280034.1:p.Ile389Asn
NR_120531.1:n.1869T>A
XM_005250297.3:c.1670T>A	XP_005250354.1:p.Ile557Asn
XM_011516113.1:c.1322T>A	XP_011514415.1:p.Ile441Asn
XM_011516114.1:c.1151T>A	XP_011514416.1:p.Ile384Asn
XM_005250297.4:c.1670T>A	XP_005250354.1:p.Ile557Asn
XM_011516114.2:c.1151T>A	XP_011514416.1:p.Ile384Asn
XM_017012091.1:c.1169T>A	XP_016867580.1:p.Ile390Asn
XM_017012092.1:c.1100T>A	XP_016867581.1:p.Ile367Asn
XM_017012093.2:c.998T>A	XP_016867582.1:p.Ile333Asn
XR_001744658.2:n.1630T>A
XR_001744659.2:n.1743T>A
XR_001744660.2:n.1675T>A
XR_001744661.2:n.1590T>A
XR_927461.3:n.1828T>A
NM_000181.4:c.1823T>A MANE Select	NP_000172.2:p.Ile608Asn
NM_001284290.2:c.1385T>A	NP_001271219.1:p.Ile462Asn
NM_001293104.2:c.1253T>A	NP_001280033.1:p.Ile418Asn
NM_001293105.2:c.1166T>A	NP_001280034.1:p.Ile389Asn
NR_120531.2:n.1768T>A