Canonical Allele Identifier: CA455439406

Gene: GUSB

Linked Data

• dbSNP Id: rs1309978801
• gnomAD v2: 7-65425920-G-C
• gnomAD v4: 7-65960933-G-C
• MyVariant Identifiers: chr7:g.65425920G>C (hg19) ; chr7:g.65960933G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960933G>C , CM000669.2:g.65960933G>C	GRCh38
NC_000007.13:g.65425920G>C , CM000669.1:g.65425920G>C	GRCh37
NC_000007.12:g.65063355G>C	NCBI36
NG_016197.1:g.26382C>G
NG_051954.1:g.92835G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1920C>G MANE Select	ENSP00000302728.4:p.Ala640=
ENST00000304895.8:c.1920C>G	ENSP00000302728.4:p.Ala640=
ENST00000421103.5:c.1482C>G	ENSP00000391390.1:p.Ala494=
ENST00000430730.5:c.*1187C>G	ENSP00000411859.1:n.*1187C>G
ENST00000447929.5:c.*1300C>G	ENSP00000411262.1:n.*1300C>G
ENST00000466883.5:n.2310C>G
NM_000181.3:c.1920C>G	NP_000172.2:p.Ala640=
NM_001284290.1:c.1482C>G	NP_001271219.1:p.Ala494=
NM_001293104.1:c.1350C>G	NP_001280033.1:p.Ala450=
NM_001293105.1:c.1263C>G	NP_001280034.1:p.Ala421=
NR_120531.1:n.1966C>G
XM_005250297.3:c.1767C>G	XP_005250354.1:p.Ala589=
XM_011516113.1:c.1419C>G	XP_011514415.1:p.Ala473=
XM_011516114.1:c.1248C>G	XP_011514416.1:p.Ala416=
XM_005250297.4:c.1767C>G	XP_005250354.1:p.Ala589=
XM_011516114.2:c.1248C>G	XP_011514416.1:p.Ala416=
XM_017012091.1:c.1266C>G	XP_016867580.1:p.Ala422=
XM_017012092.1:c.1197C>G	XP_016867581.1:p.Ala399=
XM_017012093.2:c.1095C>G	XP_016867582.1:p.Ala365=
XR_001744658.2:n.1727C>G
XR_001744659.2:n.1840C>G
XR_001744660.2:n.1772C>G
XR_001744661.2:n.1687C>G
XR_927461.3:n.1925C>G
NM_000181.4:c.1920C>G MANE Select	NP_000172.2:p.Ala640=
NM_001284290.2:c.1482C>G	NP_001271219.1:p.Ala494=
NM_001293104.2:c.1350C>G	NP_001280033.1:p.Ala450=
NM_001293105.2:c.1263C>G	NP_001280034.1:p.Ala421=
NR_120531.2:n.1865C>G