Canonical Allele Identifier: CA367637331

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425980G>T (hg19) ; chr7:g.65960993G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1860C>A MANE Select	ENSP00000302728.4:p.Phe620Leu
ENST00000304895.8:c.1860C>A	ENSP00000302728.4:p.Phe620Leu
ENST00000421103.5:c.1422C>A	ENSP00000391390.1:p.Phe474Leu
ENST00000430730.5:c.*1127C>A	ENSP00000411859.1:n.*1127C>A
ENST00000447929.5:c.*1240C>A	ENSP00000411262.1:n.*1240C>A
ENST00000466883.5:n.2250C>A
NM_000181.3:c.1860C>A	NP_000172.2:p.Phe620Leu
NM_001284290.1:c.1422C>A	NP_001271219.1:p.Phe474Leu
NM_001293104.1:c.1290C>A	NP_001280033.1:p.Phe430Leu
NM_001293105.1:c.1203C>A	NP_001280034.1:p.Phe401Leu
NR_120531.1:n.1906C>A
XM_005250297.3:c.1707C>A	XP_005250354.1:p.Phe569Leu
XM_011516113.1:c.1359C>A	XP_011514415.1:p.Phe453Leu
XM_011516114.1:c.1188C>A	XP_011514416.1:p.Phe396Leu
XM_005250297.4:c.1707C>A	XP_005250354.1:p.Phe569Leu
XM_011516114.2:c.1188C>A	XP_011514416.1:p.Phe396Leu
XM_017012091.1:c.1206C>A	XP_016867580.1:p.Phe402Leu
XM_017012092.1:c.1137C>A	XP_016867581.1:p.Phe379Leu
XM_017012093.2:c.1035C>A	XP_016867582.1:p.Phe345Leu
XR_001744658.2:n.1667C>A
XR_001744659.2:n.1780C>A
XR_001744660.2:n.1712C>A
XR_001744661.2:n.1627C>A
XR_927461.3:n.1865C>A
NM_000181.4:c.1860C>A MANE Select	NP_000172.2:p.Phe620Leu
NM_001284290.2:c.1422C>A	NP_001271219.1:p.Phe474Leu
NM_001293104.2:c.1290C>A	NP_001280033.1:p.Phe430Leu
NM_001293105.2:c.1203C>A	NP_001280034.1:p.Phe401Leu
NR_120531.2:n.1805C>A