Canonical Allele Identifier: CA367636932

Gene: GUSB

Linked Data

• gnomAD v4: 7-65960903-A-C
• MyVariant Identifiers: chr7:g.65425890A>C (hg19) ; chr7:g.65960903A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960903A>C , CM000669.2:g.65960903A>C	GRCh38
NC_000007.13:g.65425890A>C , CM000669.1:g.65425890A>C	GRCh37
NC_000007.12:g.65063325A>C	NCBI36
NG_016197.1:g.26412T>G
NG_051954.1:g.92805A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1950T>G MANE Select	ENSP00000302728.4:p.Phe650Leu
ENST00000304895.8:c.1950T>G	ENSP00000302728.4:p.Phe650Leu
ENST00000421103.5:c.1512T>G	ENSP00000391390.1:p.Phe504Leu
ENST00000430730.5:c.*1217T>G	ENSP00000411859.1:n.*1217T>G
ENST00000447929.5:c.*1330T>G	ENSP00000411262.1:n.*1330T>G
ENST00000466883.5:n.2340T>G
NM_000181.3:c.1950T>G	NP_000172.2:p.Phe650Leu
NM_001284290.1:c.1512T>G	NP_001271219.1:p.Phe504Leu
NM_001293104.1:c.1380T>G	NP_001280033.1:p.Phe460Leu
NM_001293105.1:c.1293T>G	NP_001280034.1:p.Phe431Leu
NR_120531.1:n.1996T>G
XM_005250297.3:c.1797T>G	XP_005250354.1:p.Phe599Leu
XM_011516113.1:c.1449T>G	XP_011514415.1:p.Phe483Leu
XM_011516114.1:c.1278T>G	XP_011514416.1:p.Phe426Leu
XM_005250297.4:c.1797T>G	XP_005250354.1:p.Phe599Leu
XM_011516114.2:c.1278T>G	XP_011514416.1:p.Phe426Leu
XM_017012091.1:c.1296T>G	XP_016867580.1:p.Phe432Leu
XM_017012092.1:c.1227T>G	XP_016867581.1:p.Phe409Leu
XM_017012093.2:c.1125T>G	XP_016867582.1:p.Phe375Leu
XR_001744658.2:n.1757T>G
XR_001744659.2:n.1870T>G
XR_001744660.2:n.1802T>G
XR_001744661.2:n.1717T>G
XR_927461.3:n.1955T>G
NM_000181.4:c.1950T>G MANE Select	NP_000172.2:p.Phe650Leu
NM_001284290.2:c.1512T>G	NP_001271219.1:p.Phe504Leu
NM_001293104.2:c.1380T>G	NP_001280033.1:p.Phe460Leu
NM_001293105.2:c.1293T>G	NP_001280034.1:p.Phe431Leu
NR_120531.2:n.1895T>G