Canonical Allele Identifier: CA367636981

Gene: GUSB

Linked Data

• dbSNP Id: rs1166304465
• gnomAD v2: 7-65425900-T-G
• MyVariant Identifiers: chr7:g.65425900T>G (hg19) ; chr7:g.65960913T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960913T>G , CM000669.2:g.65960913T>G	GRCh38
NC_000007.13:g.65425900T>G , CM000669.1:g.65425900T>G	GRCh37
NC_000007.12:g.65063335T>G	NCBI36
NG_016197.1:g.26402A>C
NG_051954.1:g.92815T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1940A>C MANE Select	ENSP00000302728.4:p.Asn647Thr
ENST00000304895.8:c.1940A>C	ENSP00000302728.4:p.Asn647Thr
ENST00000421103.5:c.1502A>C	ENSP00000391390.1:p.Asn501Thr
ENST00000430730.5:c.*1207A>C	ENSP00000411859.1:n.*1207A>C
ENST00000447929.5:c.*1320A>C	ENSP00000411262.1:n.*1320A>C
ENST00000466883.5:n.2330A>C
NM_000181.3:c.1940A>C	NP_000172.2:p.Asn647Thr
NM_001284290.1:c.1502A>C	NP_001271219.1:p.Asn501Thr
NM_001293104.1:c.1370A>C	NP_001280033.1:p.Asn457Thr
NM_001293105.1:c.1283A>C	NP_001280034.1:p.Asn428Thr
NR_120531.1:n.1986A>C
XM_005250297.3:c.1787A>C	XP_005250354.1:p.Asn596Thr
XM_011516113.1:c.1439A>C	XP_011514415.1:p.Asn480Thr
XM_011516114.1:c.1268A>C	XP_011514416.1:p.Asn423Thr
XM_005250297.4:c.1787A>C	XP_005250354.1:p.Asn596Thr
XM_011516114.2:c.1268A>C	XP_011514416.1:p.Asn423Thr
XM_017012091.1:c.1286A>C	XP_016867580.1:p.Asn429Thr
XM_017012092.1:c.1217A>C	XP_016867581.1:p.Asn406Thr
XM_017012093.2:c.1115A>C	XP_016867582.1:p.Asn372Thr
XR_001744658.2:n.1747A>C
XR_001744659.2:n.1860A>C
XR_001744660.2:n.1792A>C
XR_001744661.2:n.1707A>C
XR_927461.3:n.1945A>C
NM_000181.4:c.1940A>C MANE Select	NP_000172.2:p.Asn647Thr
NM_001284290.2:c.1502A>C	NP_001271219.1:p.Asn501Thr
NM_001293104.2:c.1370A>C	NP_001280033.1:p.Asn457Thr
NM_001293105.2:c.1283A>C	NP_001280034.1:p.Asn428Thr
NR_120531.2:n.1885A>C