Canonical Allele Identifier: CA4276265

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65970297A>G , CM000669.2:g.65970297A>G	GRCh38
NC_000007.13:g.65435284A>G , CM000669.1:g.65435284A>G	GRCh37
NC_000007.12:g.65072719A>G	NCBI36
NG_016197.1:g.17018T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000181.4:c.1461T>C MANE Select	NP_000172.2:p.Tyr487=
ENST00000304895.9:c.1461T>C MANE Select	ENSP00000302728.4:p.Tyr487=
NM_000181.3:c.1461T>C	NP_000172.2:p.Tyr487=
NM_001284290.1:c.1023T>C	NP_001271219.1:p.Tyr341=
NM_001284290.2:c.1023T>C	NP_001271219.1:p.Tyr341=
NM_001293104.1:c.891T>C	NP_001280033.1:p.Tyr297=
NM_001293104.2:c.891T>C	NP_001280033.1:p.Tyr297=
NM_001293105.1:c.804T>C	NP_001280034.1:p.Tyr268=
NM_001293105.2:c.804T>C	NP_001280034.1:p.Tyr268=
NR_120531.1:n.1523-2390T>C
NR_120531.2:n.1422-2390T>C
ENST00000304895.8:c.1461T>C	ENSP00000302728.4:p.Tyr487=
ENST00000421103.5:c.1023T>C	ENSP00000391390.1:p.Tyr341=
ENST00000430730.5:c.*728T>C	ENSP00000411859.1:n.*728T>C
ENST00000447929.5:c.*841T>C	ENSP00000411262.1:n.*841T>C
ENST00000462371.1:n.499T>C
ENST00000466883.5:n.1867-2390T>C
XM_005250297.3:c.1308T>C	XP_005250354.1:p.Tyr436=
XM_005250297.4:c.1308T>C	XP_005250354.1:p.Tyr436=
XM_011516113.1:c.960T>C	XP_011514415.1:p.Tyr320=
XM_011516114.1:c.789T>C	XP_011514416.1:p.Tyr263=
XM_011516114.2:c.789T>C	XP_011514416.1:p.Tyr263=
XM_017012091.1:c.807T>C	XP_016867580.1:p.Tyr269=
XM_017012092.1:c.738T>C	XP_016867581.1:p.Tyr246=
XM_017012093.2:c.636T>C	XP_016867582.1:p.Tyr212=
XR_001744658.2:n.1284-2390T>C
XR_001744659.2:n.1397-2390T>C
XR_001744660.2:n.1313T>C
XR_001744661.2:n.1244-2390T>C
XR_927461.1:n.1547T>C
XR_927461.3:n.1466T>C