Canonical Allele Identifier: CA2683077948

Gene: GUSB

Linked Data

• gnomAD v4: 7-65961189-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961189C>A , CM000669.2:g.65961189C>A	GRCh38
NC_000007.13:g.65426176C>A , CM000669.1:g.65426176C>A	GRCh37
NC_000007.12:g.65063611C>A	NCBI36
NG_016197.1:g.26126G>T
NG_051954.1:g.93091C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1790-126G>T MANE Select	ENSP00000302728.4:n.1790-126G>T
ENST00000304895.8:c.1790-126G>T	ENSP00000302728.4:n.1790-126G>T
ENST00000421103.5:c.1352-126G>T	ENSP00000391390.1:n.1352-126G>T
ENST00000430730.5:c.*1057-126G>T	ENSP00000411859.1:n.*1057-126G>T
ENST00000447929.5:c.*1170-126G>T	ENSP00000411262.1:n.*1170-126G>T
ENST00000466883.5:n.2180-126G>T
NM_000181.3:c.1790-126G>T	NP_000172.2:n.1790-126G>T
NM_001284290.1:c.1352-126G>T	NP_001271219.1:n.1352-126G>T
NM_001293104.1:c.1220-126G>T	NP_001280033.1:n.1220-126G>T
NM_001293105.1:c.1133-126G>T	NP_001280034.1:n.1133-126G>T
NR_120531.1:n.1836-126G>T
XM_005250297.3:c.1637-126G>T	XP_005250354.1:n.1637-126G>T
XM_011516113.1:c.1289-126G>T	XP_011514415.1:n.1289-126G>T
XM_011516114.1:c.1118-126G>T	XP_011514416.1:n.1118-126G>T
XM_005250297.4:c.1637-126G>T	XP_005250354.1:n.1637-126G>T
XM_011516114.2:c.1118-126G>T	XP_011514416.1:n.1118-126G>T
XM_017012091.1:c.1136-126G>T	XP_016867580.1:n.1136-126G>T
XM_017012092.1:c.1067-126G>T	XP_016867581.1:n.1067-126G>T
XM_017012093.2:c.965-126G>T	XP_016867582.1:n.965-126G>T
XR_001744658.2:n.1597-126G>T
XR_001744659.2:n.1710-126G>T
XR_001744660.2:n.1642-126G>T
XR_001744661.2:n.1557-126G>T
XR_927461.3:n.1795-126G>T
NM_000181.4:c.1790-126G>T MANE Select	NP_000172.2:n.1790-126G>T
NM_001284290.2:c.1352-126G>T	NP_001271219.1:n.1352-126G>T
NM_001293104.2:c.1220-126G>T	NP_001280033.1:n.1220-126G>T
NM_001293105.2:c.1133-126G>T	NP_001280034.1:n.1133-126G>T
NR_120531.2:n.1735-126G>T