Canonical Allele Identifier: CA4276319

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65974445C>T , CM000669.2:g.65974445C>T	GRCh38
NC_000007.13:g.65439432C>T , CM000669.1:g.65439432C>T	GRCh37
NC_000007.12:g.65076867C>T	NCBI36
NG_016197.1:g.12870G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000181.4:c.1245-4G>A MANE Select	NP_000172.2:n.1245-4G>A
ENST00000304895.9:c.1245-4G>A MANE Select	ENSP00000302728.4:n.1245-4G>A
NM_000181.3:c.1245-4G>A	NP_000172.2:n.1245-4G>A
NM_001284290.1:c.807-4G>A	NP_001271219.1:n.807-4G>A
NM_001284290.2:c.807-4G>A	NP_001271219.1:n.807-4G>A
NM_001293104.1:c.675-4G>A	NP_001280033.1:n.675-4G>A
NM_001293104.2:c.675-4G>A	NP_001280033.1:n.675-4G>A
NM_001293105.1:c.588-4G>A	NP_001280034.1:n.588-4G>A
NM_001293105.2:c.588-4G>A	NP_001280034.1:n.588-4G>A
NR_120531.1:n.1376-4G>A
NR_120531.2:n.1275-4G>A
ENST00000304895.8:c.1245-4G>A	ENSP00000302728.4:n.1245-4G>A
ENST00000421103.5:c.807-4G>A	ENSP00000391390.1:n.807-4G>A
ENST00000430730.5:c.*512-4G>A	ENSP00000411859.1:n.*512-4G>A
ENST00000447929.5:c.*625-4G>A	ENSP00000411262.1:n.*625-4G>A
ENST00000462371.1:n.323-44G>A
ENST00000465785.5:n.478-4G>A
ENST00000466883.5:n.1716G>A
ENST00000479038.1:n.368-4G>A
ENST00000489482.1:n.482-4G>A
XM_005250297.3:c.1092-4G>A	XP_005250354.1:n.1092-4G>A
XM_005250297.4:c.1092-4G>A	XP_005250354.1:n.1092-4G>A
XM_011516113.1:c.744-4G>A	XP_011514415.1:n.744-4G>A
XM_011516114.1:c.573-4G>A	XP_011514416.1:n.573-4G>A
XM_011516114.2:c.573-4G>A	XP_011514416.1:n.573-4G>A
XM_017012091.1:c.591-4G>A	XP_016867580.1:n.591-4G>A
XM_017012092.1:c.522-4G>A	XP_016867581.1:n.522-4G>A
XM_017012093.2:c.420-4G>A	XP_016867582.1:n.420-4G>A
XR_001744658.2:n.1137-4G>A
XR_001744659.2:n.1290-44G>A
XR_001744660.2:n.1137-44G>A
XR_001744661.2:n.1137-44G>A
XR_927461.1:n.1371-44G>A
XR_927461.3:n.1290-44G>A