Canonical Allele Identifier: CA159911072

Gene: GUSB

Linked Data

• dbSNP Id: rs1043622470
• gnomAD v2: 7-65446977-C-T
• gnomAD v4: 7-65981990-C-T
• MyVariant Identifiers: chr7:g.65446977C>T (hg19) ; chr7:g.65981990C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65981990C>T , CM000669.2:g.65981990C>T	GRCh38
NC_000007.13:g.65446977C>T , CM000669.1:g.65446977C>T	GRCh37
NC_000007.12:g.65084412C>T	NCBI36
NG_016197.1:g.5325G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.194G>A MANE Select	ENSP00000302728.4:p.Arg65Gln
ENST00000304895.8:c.194G>A	ENSP00000302728.4:p.Arg65Gln
ENST00000421103.5:c.194G>A	ENSP00000391390.1:p.Arg65Gln
ENST00000430730.5:c.194G>A	ENSP00000411859.1:p.Arg65Gln
ENST00000446111.1:c.194G>A	ENSP00000416793.1:p.Arg65Gln
ENST00000447929.5:c.194G>A	ENSP00000411262.1:p.Arg65Gln
ENST00000475316.5:n.99G>A
NM_000181.3:c.194G>A	NP_000172.2:p.Arg65Gln
NM_001284290.1:c.194G>A	NP_001271219.1:p.Arg65Gln
NM_001293104.1:c.-192G>A	NP_001280033.1:n.-192G>A
NM_001293105.1:c.-136G>A	NP_001280034.1:n.-136G>A
NR_120531.1:n.325G>A
XM_005250297.3:c.194G>A	XP_005250354.1:p.Arg65Gln
XM_011516113.1:c.-136G>A	XP_011514415.1:n.-136G>A
XR_927461.1:n.320G>A
XM_005250297.4:c.194G>A	XP_005250354.1:p.Arg65Gln
XM_011516114.2:c.-492G>A	XP_011514416.1:n.-492G>A
XM_017012091.1:c.-136G>A	XP_016867580.1:n.-136G>A
XM_017012092.1:c.-192G>A	XP_016867581.1:n.-192G>A
XM_017012093.2:c.-492G>A	XP_016867582.1:n.-492G>A
XR_001744658.2:n.239G>A
XR_001744659.2:n.239G>A
XR_001744660.2:n.239G>A
XR_001744661.2:n.239G>A
XR_927461.3:n.239G>A
NM_000181.4:c.194G>A MANE Select	NP_000172.2:p.Arg65Gln
NM_001284290.2:c.194G>A	NP_001271219.1:p.Arg65Gln
NM_001293104.2:c.-192G>A	NP_001280033.1:n.-192G>A
NM_001293105.2:c.-136G>A	NP_001280034.1:n.-136G>A
NR_120531.2:n.224G>A