Canonical Allele Identifier: CA4276251

Gene: GUSB

Linked Data

• dbSNP Id: rs201361157
• ExAC: 7:65432918 G / A
• gnomAD v2: 7-65432918-G-A
• gnomAD v3: 7-65967931-G-A
• gnomAD v4: 7-65967931-G-A
• MyVariant Identifiers: chr7:g.65432918G>A (hg19) ; chr7:g.65967931G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967931G>A , CM000669.2:g.65967931G>A	GRCh38
NC_000007.13:g.65432918G>A , CM000669.1:g.65432918G>A	GRCh37
NC_000007.12:g.65070353G>A	NCBI36
NG_016197.1:g.19384C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1477-24C>T MANE Select	ENSP00000302728.4:n.1477-24C>T
ENST00000304895.8:c.1477-24C>T	ENSP00000302728.4:n.1477-24C>T
ENST00000421103.5:c.1039-24C>T	ENSP00000391390.1:n.1039-24C>T
ENST00000430730.5:c.*744-24C>T	ENSP00000411859.1:n.*744-24C>T
ENST00000447929.5:c.*857-24C>T	ENSP00000411262.1:n.*857-24C>T
ENST00000462371.1:n.515-24C>T
ENST00000466883.5:n.1867-24C>T
NM_000181.3:c.1477-24C>T	NP_000172.2:n.1477-24C>T
NM_001284290.1:c.1039-24C>T	NP_001271219.1:n.1039-24C>T
NM_001293104.1:c.907-24C>T	NP_001280033.1:n.907-24C>T
NM_001293105.1:c.820-24C>T	NP_001280034.1:n.820-24C>T
NR_120531.1:n.1523-24C>T
XM_005250297.3:c.1324-24C>T	XP_005250354.1:n.1324-24C>T
XM_011516113.1:c.976-24C>T	XP_011514415.1:n.976-24C>T
XM_011516114.1:c.805-24C>T	XP_011514416.1:n.805-24C>T
XR_927461.1:n.1563-24C>T
XM_005250297.4:c.1324-24C>T	XP_005250354.1:n.1324-24C>T
XM_011516114.2:c.805-24C>T	XP_011514416.1:n.805-24C>T
XM_017012091.1:c.823-24C>T	XP_016867580.1:n.823-24C>T
XM_017012092.1:c.754-24C>T	XP_016867581.1:n.754-24C>T
XM_017012093.2:c.652-24C>T	XP_016867582.1:n.652-24C>T
XR_001744658.2:n.1284-24C>T
XR_001744659.2:n.1397-24C>T
XR_001744660.2:n.1329-24C>T
XR_001744661.2:n.1244-24C>T
XR_927461.3:n.1482-24C>T
NM_000181.4:c.1477-24C>T MANE Select	NP_000172.2:n.1477-24C>T
NM_001284290.2:c.1039-24C>T	NP_001271219.1:n.1039-24C>T
NM_001293104.2:c.907-24C>T	NP_001280033.1:n.907-24C>T
NM_001293105.2:c.820-24C>T	NP_001280034.1:n.820-24C>T
NR_120531.2:n.1422-24C>T