Canonical Allele Identifier: CA367637069

Gene: GUSB

Linked Data

• gnomAD v4: 7-65960934-G-A
• MyVariant Identifiers: chr7:g.65425921G>A (hg19) ; chr7:g.65960934G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960934G>A , CM000669.2:g.65960934G>A	GRCh38
NC_000007.13:g.65425921G>A , CM000669.1:g.65425921G>A	GRCh37
NC_000007.12:g.65063356G>A	NCBI36
NG_016197.1:g.26381C>T
NG_051954.1:g.92836G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1919C>T MANE Select	ENSP00000302728.4:p.Ala640Val
ENST00000304895.8:c.1919C>T	ENSP00000302728.4:p.Ala640Val
ENST00000421103.5:c.1481C>T	ENSP00000391390.1:p.Ala494Val
ENST00000430730.5:c.*1186C>T	ENSP00000411859.1:n.*1186C>T
ENST00000447929.5:c.*1299C>T	ENSP00000411262.1:n.*1299C>T
ENST00000466883.5:n.2309C>T
NM_000181.3:c.1919C>T	NP_000172.2:p.Ala640Val
NM_001284290.1:c.1481C>T	NP_001271219.1:p.Ala494Val
NM_001293104.1:c.1349C>T	NP_001280033.1:p.Ala450Val
NM_001293105.1:c.1262C>T	NP_001280034.1:p.Ala421Val
NR_120531.1:n.1965C>T
XM_005250297.3:c.1766C>T	XP_005250354.1:p.Ala589Val
XM_011516113.1:c.1418C>T	XP_011514415.1:p.Ala473Val
XM_011516114.1:c.1247C>T	XP_011514416.1:p.Ala416Val
XM_005250297.4:c.1766C>T	XP_005250354.1:p.Ala589Val
XM_011516114.2:c.1247C>T	XP_011514416.1:p.Ala416Val
XM_017012091.1:c.1265C>T	XP_016867580.1:p.Ala422Val
XM_017012092.1:c.1196C>T	XP_016867581.1:p.Ala399Val
XM_017012093.2:c.1094C>T	XP_016867582.1:p.Ala365Val
XR_001744658.2:n.1726C>T
XR_001744659.2:n.1839C>T
XR_001744660.2:n.1771C>T
XR_001744661.2:n.1686C>T
XR_927461.3:n.1924C>T
NM_000181.4:c.1919C>T MANE Select	NP_000172.2:p.Ala640Val
NM_001284290.2:c.1481C>T	NP_001271219.1:p.Ala494Val
NM_001293104.2:c.1349C>T	NP_001280033.1:p.Ala450Val
NM_001293105.2:c.1262C>T	NP_001280034.1:p.Ala421Val
NR_120531.2:n.1864C>T