Canonical Allele Identifier: CA455439814

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425980G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960993G>A , CM000669.2:g.65960993G>A	GRCh38
NC_000007.13:g.65425980G>A , CM000669.1:g.65425980G>A	GRCh37
NC_000007.12:g.65063415G>A	NCBI36
NG_016197.1:g.26322C>T
NG_051954.1:g.92895G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1860C>T MANE Select	ENSP00000302728.4:p.Phe620=
ENST00000304895.8:c.1860C>T	ENSP00000302728.4:p.Phe620=
ENST00000421103.5:c.1422C>T	ENSP00000391390.1:p.Phe474=
ENST00000430730.5:c.*1127C>T	ENSP00000411859.1:n.*1127C>T
ENST00000447929.5:c.*1240C>T	ENSP00000411262.1:n.*1240C>T
ENST00000466883.5:n.2250C>T
NM_000181.3:c.1860C>T	NP_000172.2:p.Phe620=
NM_001284290.1:c.1422C>T	NP_001271219.1:p.Phe474=
NM_001293104.1:c.1290C>T	NP_001280033.1:p.Phe430=
NM_001293105.1:c.1203C>T	NP_001280034.1:p.Phe401=
NR_120531.1:n.1906C>T
XM_005250297.3:c.1707C>T	XP_005250354.1:p.Phe569=
XM_011516113.1:c.1359C>T	XP_011514415.1:p.Phe453=
XM_011516114.1:c.1188C>T	XP_011514416.1:p.Phe396=
XM_005250297.4:c.1707C>T	XP_005250354.1:p.Phe569=
XM_011516114.2:c.1188C>T	XP_011514416.1:p.Phe396=
XM_017012091.1:c.1206C>T	XP_016867580.1:p.Phe402=
XM_017012092.1:c.1137C>T	XP_016867581.1:p.Phe379=
XM_017012093.2:c.1035C>T	XP_016867582.1:p.Phe345=
XR_001744658.2:n.1667C>T
XR_001744659.2:n.1780C>T
XR_001744660.2:n.1712C>T
XR_001744661.2:n.1627C>T
XR_927461.3:n.1865C>T
NM_000181.4:c.1860C>T MANE Select	NP_000172.2:p.Phe620=
NM_001284290.2:c.1422C>T	NP_001271219.1:p.Phe474=
NM_001293104.2:c.1290C>T	NP_001280033.1:p.Phe430=
NM_001293105.2:c.1203C>T	NP_001280034.1:p.Phe401=
NR_120531.2:n.1805C>T