Canonical Allele Identifier: CA367636977

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425900T>A (hg19) ; chr7:g.65960913T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960913T>A , CM000669.2:g.65960913T>A	GRCh38
NC_000007.13:g.65425900T>A , CM000669.1:g.65425900T>A	GRCh37
NC_000007.12:g.65063335T>A	NCBI36
NG_016197.1:g.26402A>T
NG_051954.1:g.92815T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1940A>T MANE Select	ENSP00000302728.4:p.Asn647Ile
ENST00000304895.8:c.1940A>T	ENSP00000302728.4:p.Asn647Ile
ENST00000421103.5:c.1502A>T	ENSP00000391390.1:p.Asn501Ile
ENST00000430730.5:c.*1207A>T	ENSP00000411859.1:n.*1207A>T
ENST00000447929.5:c.*1320A>T	ENSP00000411262.1:n.*1320A>T
ENST00000466883.5:n.2330A>T
NM_000181.3:c.1940A>T	NP_000172.2:p.Asn647Ile
NM_001284290.1:c.1502A>T	NP_001271219.1:p.Asn501Ile
NM_001293104.1:c.1370A>T	NP_001280033.1:p.Asn457Ile
NM_001293105.1:c.1283A>T	NP_001280034.1:p.Asn428Ile
NR_120531.1:n.1986A>T
XM_005250297.3:c.1787A>T	XP_005250354.1:p.Asn596Ile
XM_011516113.1:c.1439A>T	XP_011514415.1:p.Asn480Ile
XM_011516114.1:c.1268A>T	XP_011514416.1:p.Asn423Ile
XM_005250297.4:c.1787A>T	XP_005250354.1:p.Asn596Ile
XM_011516114.2:c.1268A>T	XP_011514416.1:p.Asn423Ile
XM_017012091.1:c.1286A>T	XP_016867580.1:p.Asn429Ile
XM_017012092.1:c.1217A>T	XP_016867581.1:p.Asn406Ile
XM_017012093.2:c.1115A>T	XP_016867582.1:p.Asn372Ile
XR_001744658.2:n.1747A>T
XR_001744659.2:n.1860A>T
XR_001744660.2:n.1792A>T
XR_001744661.2:n.1707A>T
XR_927461.3:n.1945A>T
NM_000181.4:c.1940A>T MANE Select	NP_000172.2:p.Asn647Ile
NM_001284290.2:c.1502A>T	NP_001271219.1:p.Asn501Ile
NM_001293104.2:c.1370A>T	NP_001280033.1:p.Asn457Ile
NM_001293105.2:c.1283A>T	NP_001280034.1:p.Asn428Ile
NR_120531.2:n.1885A>T