Canonical Allele Identifier: CA367637194

Gene: GUSB

Linked Data

• gnomAD v4: 7-65960961-T-G
• COSMIC: COSM1635371
• MyVariant Identifiers: chr7:g.65425948T>G (hg19) ; chr7:g.65960961T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960961T>G , CM000669.2:g.65960961T>G	GRCh38
NC_000007.13:g.65425948T>G , CM000669.1:g.65425948T>G	GRCh37
NC_000007.12:g.65063383T>G	NCBI36
NG_016197.1:g.26354A>C
NG_051954.1:g.92863T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1892A>C MANE Select	ENSP00000302728.4:p.Asn631Thr
ENST00000304895.8:c.1892A>C	ENSP00000302728.4:p.Asn631Thr
ENST00000421103.5:c.1454A>C	ENSP00000391390.1:p.Asn485Thr
ENST00000430730.5:c.*1159A>C	ENSP00000411859.1:n.*1159A>C
ENST00000447929.5:c.*1272A>C	ENSP00000411262.1:n.*1272A>C
ENST00000466883.5:n.2282A>C
NM_000181.3:c.1892A>C	NP_000172.2:p.Asn631Thr
NM_001284290.1:c.1454A>C	NP_001271219.1:p.Asn485Thr
NM_001293104.1:c.1322A>C	NP_001280033.1:p.Asn441Thr
NM_001293105.1:c.1235A>C	NP_001280034.1:p.Asn412Thr
NR_120531.1:n.1938A>C
XM_005250297.3:c.1739A>C	XP_005250354.1:p.Asn580Thr
XM_011516113.1:c.1391A>C	XP_011514415.1:p.Asn464Thr
XM_011516114.1:c.1220A>C	XP_011514416.1:p.Asn407Thr
XM_005250297.4:c.1739A>C	XP_005250354.1:p.Asn580Thr
XM_011516114.2:c.1220A>C	XP_011514416.1:p.Asn407Thr
XM_017012091.1:c.1238A>C	XP_016867580.1:p.Asn413Thr
XM_017012092.1:c.1169A>C	XP_016867581.1:p.Asn390Thr
XM_017012093.2:c.1067A>C	XP_016867582.1:p.Asn356Thr
XR_001744658.2:n.1699A>C
XR_001744659.2:n.1812A>C
XR_001744660.2:n.1744A>C
XR_001744661.2:n.1659A>C
XR_927461.3:n.1897A>C
NM_000181.4:c.1892A>C MANE Select	NP_000172.2:p.Asn631Thr
NM_001284290.2:c.1454A>C	NP_001271219.1:p.Asn485Thr
NM_001293104.2:c.1322A>C	NP_001280033.1:p.Asn441Thr
NM_001293105.2:c.1235A>C	NP_001280034.1:p.Asn412Thr
NR_120531.2:n.1837A>C