Canonical Allele Identifier: CA367637218

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425955T>A (hg19) ; chr7:g.65960968T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960968T>A , CM000669.2:g.65960968T>A	GRCh38
NC_000007.13:g.65425955T>A , CM000669.1:g.65425955T>A	GRCh37
NC_000007.12:g.65063390T>A	NCBI36
NG_016197.1:g.26347A>T
NG_051954.1:g.92870T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1885A>T MANE Select	ENSP00000302728.4:p.Ile629Phe
ENST00000304895.8:c.1885A>T	ENSP00000302728.4:p.Ile629Phe
ENST00000421103.5:c.1447A>T	ENSP00000391390.1:p.Ile483Phe
ENST00000430730.5:c.*1152A>T	ENSP00000411859.1:n.*1152A>T
ENST00000447929.5:c.*1265A>T	ENSP00000411262.1:n.*1265A>T
ENST00000466883.5:n.2275A>T
NM_000181.3:c.1885A>T	NP_000172.2:p.Ile629Phe
NM_001284290.1:c.1447A>T	NP_001271219.1:p.Ile483Phe
NM_001293104.1:c.1315A>T	NP_001280033.1:p.Ile439Phe
NM_001293105.1:c.1228A>T	NP_001280034.1:p.Ile410Phe
NR_120531.1:n.1931A>T
XM_005250297.3:c.1732A>T	XP_005250354.1:p.Ile578Phe
XM_011516113.1:c.1384A>T	XP_011514415.1:p.Ile462Phe
XM_011516114.1:c.1213A>T	XP_011514416.1:p.Ile405Phe
XM_005250297.4:c.1732A>T	XP_005250354.1:p.Ile578Phe
XM_011516114.2:c.1213A>T	XP_011514416.1:p.Ile405Phe
XM_017012091.1:c.1231A>T	XP_016867580.1:p.Ile411Phe
XM_017012092.1:c.1162A>T	XP_016867581.1:p.Ile388Phe
XM_017012093.2:c.1060A>T	XP_016867582.1:p.Ile354Phe
XR_001744658.2:n.1692A>T
XR_001744659.2:n.1805A>T
XR_001744660.2:n.1737A>T
XR_001744661.2:n.1652A>T
XR_927461.3:n.1890A>T
NM_000181.4:c.1885A>T MANE Select	NP_000172.2:p.Ile629Phe
NM_001284290.2:c.1447A>T	NP_001271219.1:p.Ile483Phe
NM_001293104.2:c.1315A>T	NP_001280033.1:p.Ile439Phe
NM_001293105.2:c.1228A>T	NP_001280034.1:p.Ile410Phe
NR_120531.2:n.1830A>T