Canonical Allele Identifier: CA2683079409

Gene: GUSB

Linked Data

• gnomAD v4: 7-65982198-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65982198C>T , CM000669.2:g.65982198C>T	GRCh38
NC_000007.13:g.65447185C>T , CM000669.1:g.65447185C>T	GRCh37
NC_000007.12:g.65084620C>T	NCBI36
NG_016197.1:g.5117G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.-15G>A MANE Select	ENSP00000302728.4:n.-15G>A
ENST00000304895.8:c.-15G>A	ENSP00000302728.4:n.-15G>A
ENST00000421103.5:c.-15G>A	ENSP00000391390.1:n.-15G>A
ENST00000430730.5:c.-15G>A	ENSP00000411859.1:n.-15G>A
ENST00000446111.1:c.-15G>A	ENSP00000416793.1:n.-15G>A
NM_000181.3:c.-15G>A	NP_000172.2:n.-15G>A
NM_001284290.1:c.-15G>A	NP_001271219.1:n.-15G>A
NM_001293104.1:c.-400G>A	NP_001280033.1:n.-400G>A
NM_001293105.1:c.-344G>A	NP_001280034.1:n.-344G>A
NR_120531.1:n.117G>A
XM_005250297.3:c.-15G>A	XP_005250354.1:n.-15G>A
XM_011516113.1:c.-344G>A	XP_011514415.1:n.-344G>A
XR_927461.1:n.112G>A
XM_005250297.4:c.-15G>A	XP_005250354.1:n.-15G>A
XM_017012091.1:c.-344G>A	XP_016867580.1:n.-344G>A
XM_017012092.1:c.-400G>A	XP_016867581.1:n.-400G>A
XR_001744658.2:n.31G>A
XR_001744659.2:n.31G>A
XR_001744660.2:n.31G>A
XR_001744661.2:n.31G>A
XR_927461.3:n.31G>A
NM_000181.4:c.-15G>A MANE Select	NP_000172.2:n.-15G>A
NM_001284290.2:c.-15G>A	NP_001271219.1:n.-15G>A
NM_001293104.2:c.-400G>A	NP_001280033.1:n.-400G>A
NM_001293105.2:c.-344G>A	NP_001280034.1:n.-344G>A
NR_120531.2:n.16G>A