Canonical Allele Identifier: CA455449254

Gene: GUSB

Linked Data

• dbSNP Id: rs1251069126
• gnomAD v2: 7-65447003-G-C
• gnomAD v4: 7-65982016-G-C
• MyVariant Identifiers: chr7:g.65447003G>C (hg19) ; chr7:g.65982016G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65982016G>C , CM000669.2:g.65982016G>C	GRCh38
NC_000007.13:g.65447003G>C , CM000669.1:g.65447003G>C	GRCh37
NC_000007.12:g.65084438G>C	NCBI36
NG_016197.1:g.5299C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.168C>G MANE Select	ENSP00000302728.4:p.Arg56=
ENST00000304895.8:c.168C>G	ENSP00000302728.4:p.Arg56=
ENST00000421103.5:c.168C>G	ENSP00000391390.1:p.Arg56=
ENST00000430730.5:c.168C>G	ENSP00000411859.1:p.Arg56=
ENST00000446111.1:c.168C>G	ENSP00000416793.1:p.Arg56=
ENST00000447929.5:c.168C>G	ENSP00000411262.1:p.Arg56=
ENST00000475316.5:n.73C>G
NM_000181.3:c.168C>G	NP_000172.2:p.Arg56=
NM_001284290.1:c.168C>G	NP_001271219.1:p.Arg56=
NM_001293104.1:c.-218C>G	NP_001280033.1:n.-218C>G
NM_001293105.1:c.-162C>G	NP_001280034.1:n.-162C>G
NR_120531.1:n.299C>G
XM_005250297.3:c.168C>G	XP_005250354.1:p.Arg56=
XM_011516113.1:c.-162C>G	XP_011514415.1:n.-162C>G
XR_927461.1:n.294C>G
XM_005250297.4:c.168C>G	XP_005250354.1:p.Arg56=
XM_011516114.2:c.-518C>G	XP_011514416.1:n.-518C>G
XM_017012091.1:c.-162C>G	XP_016867580.1:n.-162C>G
XM_017012092.1:c.-218C>G	XP_016867581.1:n.-218C>G
XM_017012093.2:c.-518C>G	XP_016867582.1:n.-518C>G
XR_001744658.2:n.213C>G
XR_001744659.2:n.213C>G
XR_001744660.2:n.213C>G
XR_001744661.2:n.213C>G
XR_927461.3:n.213C>G
NM_000181.4:c.168C>G MANE Select	NP_000172.2:p.Arg56=
NM_001284290.2:c.168C>G	NP_001271219.1:p.Arg56=
NM_001293104.2:c.-218C>G	NP_001280033.1:n.-218C>G
NM_001293105.2:c.-162C>G	NP_001280034.1:n.-162C>G
NR_120531.2:n.198C>G