Canonical Allele Identifier: CA367640447

Gene: GUSB

Linked Data

• gnomAD v4: 7-65967879-T-C
• MyVariant Identifiers: chr7:g.65432866T>C (hg19) ; chr7:g.65967879T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967879T>C , CM000669.2:g.65967879T>C	GRCh38
NC_000007.13:g.65432866T>C , CM000669.1:g.65432866T>C	GRCh37
NC_000007.12:g.65070301T>C	NCBI36
NG_016197.1:g.19436A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1505A>G MANE Select	ENSP00000302728.4:p.Asn502Ser
ENST00000304895.8:c.1505A>G	ENSP00000302728.4:p.Asn502Ser
ENST00000421103.5:c.1067A>G	ENSP00000391390.1:p.Asn356Ser
ENST00000430730.5:c.*772A>G	ENSP00000411859.1:n.*772A>G
ENST00000447929.5:c.*885A>G	ENSP00000411262.1:n.*885A>G
ENST00000461622.1:n.30A>G
ENST00000462371.1:n.543A>G
ENST00000466883.5:n.1895A>G
NM_000181.3:c.1505A>G	NP_000172.2:p.Asn502Ser
NM_001284290.1:c.1067A>G	NP_001271219.1:p.Asn356Ser
NM_001293104.1:c.935A>G	NP_001280033.1:p.Asn312Ser
NM_001293105.1:c.848A>G	NP_001280034.1:p.Asn283Ser
NR_120531.1:n.1551A>G
XM_005250297.3:c.1352A>G	XP_005250354.1:p.Asn451Ser
XM_011516113.1:c.1004A>G	XP_011514415.1:p.Asn335Ser
XM_011516114.1:c.833A>G	XP_011514416.1:p.Asn278Ser
XR_927461.1:n.1591A>G
XM_005250297.4:c.1352A>G	XP_005250354.1:p.Asn451Ser
XM_011516114.2:c.833A>G	XP_011514416.1:p.Asn278Ser
XM_017012091.1:c.851A>G	XP_016867580.1:p.Asn284Ser
XM_017012092.1:c.782A>G	XP_016867581.1:p.Asn261Ser
XM_017012093.2:c.680A>G	XP_016867582.1:p.Asn227Ser
XR_001744658.2:n.1312A>G
XR_001744659.2:n.1425A>G
XR_001744660.2:n.1357A>G
XR_001744661.2:n.1272A>G
XR_927461.3:n.1510A>G
NM_000181.4:c.1505A>G MANE Select	NP_000172.2:p.Asn502Ser
NM_001284290.2:c.1067A>G	NP_001271219.1:p.Asn356Ser
NM_001293104.2:c.935A>G	NP_001280033.1:p.Asn312Ser
NM_001293105.2:c.848A>G	NP_001280034.1:p.Asn283Ser
NR_120531.2:n.1450A>G