Canonical Allele Identifier: CA4276135

Gene: GUSB

Linked Data

• ClinVar Variation Id: 2073568
• ClinVar RCV Id: RCV002971983
• dbSNP Id: rs772478693
• ExAC: 7:65425895 G / A
• gnomAD v2: 7-65425895-G-A
• gnomAD v3: 7-65960908-G-A
• gnomAD v4: 7-65960908-G-A
• MyVariant Identifiers: chr7:g.65425895G>A (hg19) ; chr7:g.65960908G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960908G>A , CM000669.2:g.65960908G>A	GRCh38
NC_000007.13:g.65425895G>A , CM000669.1:g.65425895G>A	GRCh37
NC_000007.12:g.65063330G>A	NCBI36
NG_016197.1:g.26407C>T
NG_051954.1:g.92810G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1945C>T MANE Select	ENSP00000302728.4:p.Leu649=
ENST00000304895.8:c.1945C>T	ENSP00000302728.4:p.Leu649=
ENST00000421103.5:c.1507C>T	ENSP00000391390.1:p.Leu503=
ENST00000430730.5:c.*1212C>T	ENSP00000411859.1:n.*1212C>T
ENST00000447929.5:c.*1325C>T	ENSP00000411262.1:n.*1325C>T
ENST00000466883.5:n.2335C>T
NM_000181.3:c.1945C>T	NP_000172.2:p.Leu649=
NM_001284290.1:c.1507C>T	NP_001271219.1:p.Leu503=
NM_001293104.1:c.1375C>T	NP_001280033.1:p.Leu459=
NM_001293105.1:c.1288C>T	NP_001280034.1:p.Leu430=
NR_120531.1:n.1991C>T
XM_005250297.3:c.1792C>T	XP_005250354.1:p.Leu598=
XM_011516113.1:c.1444C>T	XP_011514415.1:p.Leu482=
XM_011516114.1:c.1273C>T	XP_011514416.1:p.Leu425=
XM_005250297.4:c.1792C>T	XP_005250354.1:p.Leu598=
XM_011516114.2:c.1273C>T	XP_011514416.1:p.Leu425=
XM_017012091.1:c.1291C>T	XP_016867580.1:p.Leu431=
XM_017012092.1:c.1222C>T	XP_016867581.1:p.Leu408=
XM_017012093.2:c.1120C>T	XP_016867582.1:p.Leu374=
XR_001744658.2:n.1752C>T
XR_001744659.2:n.1865C>T
XR_001744660.2:n.1797C>T
XR_001744661.2:n.1712C>T
XR_927461.3:n.1950C>T
NM_000181.4:c.1945C>T MANE Select	NP_000172.2:p.Leu649=
NM_001284290.2:c.1507C>T	NP_001271219.1:p.Leu503=
NM_001293104.2:c.1375C>T	NP_001280033.1:p.Leu459=
NM_001293105.2:c.1288C>T	NP_001280034.1:p.Leu430=
NR_120531.2:n.1890C>T