Canonical Allele Identifier: CA367640375

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432854G>A (hg19) ; chr7:g.65967867G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967867G>A , CM000669.2:g.65967867G>A	GRCh38
NC_000007.13:g.65432854G>A , CM000669.1:g.65432854G>A	GRCh37
NC_000007.12:g.65070289G>A	NCBI36
NG_016197.1:g.19448C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1517C>T MANE Select	ENSP00000302728.4:p.Ser506Phe
ENST00000304895.8:c.1517C>T	ENSP00000302728.4:p.Ser506Phe
ENST00000421103.5:c.1079C>T	ENSP00000391390.1:p.Ser360Phe
ENST00000430730.5:c.*784C>T	ENSP00000411859.1:n.*784C>T
ENST00000447929.5:c.*897C>T	ENSP00000411262.1:n.*897C>T
ENST00000461622.1:n.42C>T
ENST00000462371.1:n.555C>T
ENST00000466883.5:n.1907C>T
NM_000181.3:c.1517C>T	NP_000172.2:p.Ser506Phe
NM_001284290.1:c.1079C>T	NP_001271219.1:p.Ser360Phe
NM_001293104.1:c.947C>T	NP_001280033.1:p.Ser316Phe
NM_001293105.1:c.860C>T	NP_001280034.1:p.Ser287Phe
NR_120531.1:n.1563C>T
XM_005250297.3:c.1364C>T	XP_005250354.1:p.Ser455Phe
XM_011516113.1:c.1016C>T	XP_011514415.1:p.Ser339Phe
XM_011516114.1:c.845C>T	XP_011514416.1:p.Ser282Phe
XR_927461.1:n.1603C>T
XM_005250297.4:c.1364C>T	XP_005250354.1:p.Ser455Phe
XM_011516114.2:c.845C>T	XP_011514416.1:p.Ser282Phe
XM_017012091.1:c.863C>T	XP_016867580.1:p.Ser288Phe
XM_017012092.1:c.794C>T	XP_016867581.1:p.Ser265Phe
XM_017012093.2:c.692C>T	XP_016867582.1:p.Ser231Phe
XR_001744658.2:n.1324C>T
XR_001744659.2:n.1437C>T
XR_001744660.2:n.1369C>T
XR_001744661.2:n.1284C>T
XR_927461.3:n.1522C>T
NM_000181.4:c.1517C>T MANE Select	NP_000172.2:p.Ser506Phe
NM_001284290.2:c.1079C>T	NP_001271219.1:p.Ser360Phe
NM_001293104.2:c.947C>T	NP_001280033.1:p.Ser316Phe
NM_001293105.2:c.860C>T	NP_001280034.1:p.Ser287Phe
NR_120531.2:n.1462C>T