Canonical Allele Identifier: CA367637210

Gene: GUSB

Linked Data

• dbSNP Id: rs1790448531
• gnomAD v4: 7-65960965-C-T
• MyVariant Identifiers: chr7:g.65425952C>T (hg19) ; chr7:g.65960965C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960965C>T , CM000669.2:g.65960965C>T	GRCh38
NC_000007.13:g.65425952C>T , CM000669.1:g.65425952C>T	GRCh37
NC_000007.12:g.65063387C>T	NCBI36
NG_016197.1:g.26350G>A
NG_051954.1:g.92867C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1888G>A MANE Select	ENSP00000302728.4:p.Ala630Thr
ENST00000304895.8:c.1888G>A	ENSP00000302728.4:p.Ala630Thr
ENST00000421103.5:c.1450G>A	ENSP00000391390.1:p.Ala484Thr
ENST00000430730.5:c.*1155G>A	ENSP00000411859.1:n.*1155G>A
ENST00000447929.5:c.*1268G>A	ENSP00000411262.1:n.*1268G>A
ENST00000466883.5:n.2278G>A
NM_000181.3:c.1888G>A	NP_000172.2:p.Ala630Thr
NM_001284290.1:c.1450G>A	NP_001271219.1:p.Ala484Thr
NM_001293104.1:c.1318G>A	NP_001280033.1:p.Ala440Thr
NM_001293105.1:c.1231G>A	NP_001280034.1:p.Ala411Thr
NR_120531.1:n.1934G>A
XM_005250297.3:c.1735G>A	XP_005250354.1:p.Ala579Thr
XM_011516113.1:c.1387G>A	XP_011514415.1:p.Ala463Thr
XM_011516114.1:c.1216G>A	XP_011514416.1:p.Ala406Thr
XM_005250297.4:c.1735G>A	XP_005250354.1:p.Ala579Thr
XM_011516114.2:c.1216G>A	XP_011514416.1:p.Ala406Thr
XM_017012091.1:c.1234G>A	XP_016867580.1:p.Ala412Thr
XM_017012092.1:c.1165G>A	XP_016867581.1:p.Ala389Thr
XM_017012093.2:c.1063G>A	XP_016867582.1:p.Ala355Thr
XR_001744658.2:n.1695G>A
XR_001744659.2:n.1808G>A
XR_001744660.2:n.1740G>A
XR_001744661.2:n.1655G>A
XR_927461.3:n.1893G>A
NM_000181.4:c.1888G>A MANE Select	NP_000172.2:p.Ala630Thr
NM_001284290.2:c.1450G>A	NP_001271219.1:p.Ala484Thr
NM_001293104.2:c.1318G>A	NP_001280033.1:p.Ala440Thr
NM_001293105.2:c.1231G>A	NP_001280034.1:p.Ala411Thr
NR_120531.2:n.1833G>A