Canonical Allele Identifier: CA455439488

Gene: GUSB

Linked Data

• dbSNP Id: rs1332872906
• gnomAD v3: 7-65960945-G-T
• gnomAD v4: 7-65960945-G-T
• MyVariant Identifiers: chr7:g.65425932G>T (hg19) ; chr7:g.65960945G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960945G>T , CM000669.2:g.65960945G>T	GRCh38
NC_000007.13:g.65425932G>T , CM000669.1:g.65425932G>T	GRCh37
NC_000007.12:g.65063367G>T	NCBI36
NG_016197.1:g.26370C>A
NG_051954.1:g.92847G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1908C>A MANE Select	ENSP00000302728.4:p.Pro636=
ENST00000304895.8:c.1908C>A	ENSP00000302728.4:p.Pro636=
ENST00000421103.5:c.1470C>A	ENSP00000391390.1:p.Pro490=
ENST00000430730.5:c.*1175C>A	ENSP00000411859.1:n.*1175C>A
ENST00000447929.5:c.*1288C>A	ENSP00000411262.1:n.*1288C>A
ENST00000466883.5:n.2298C>A
NM_000181.3:c.1908C>A	NP_000172.2:p.Pro636=
NM_001284290.1:c.1470C>A	NP_001271219.1:p.Pro490=
NM_001293104.1:c.1338C>A	NP_001280033.1:p.Pro446=
NM_001293105.1:c.1251C>A	NP_001280034.1:p.Pro417=
NR_120531.1:n.1954C>A
XM_005250297.3:c.1755C>A	XP_005250354.1:p.Pro585=
XM_011516113.1:c.1407C>A	XP_011514415.1:p.Pro469=
XM_011516114.1:c.1236C>A	XP_011514416.1:p.Pro412=
XM_005250297.4:c.1755C>A	XP_005250354.1:p.Pro585=
XM_011516114.2:c.1236C>A	XP_011514416.1:p.Pro412=
XM_017012091.1:c.1254C>A	XP_016867580.1:p.Pro418=
XM_017012092.1:c.1185C>A	XP_016867581.1:p.Pro395=
XM_017012093.2:c.1083C>A	XP_016867582.1:p.Pro361=
XR_001744658.2:n.1715C>A
XR_001744659.2:n.1828C>A
XR_001744660.2:n.1760C>A
XR_001744661.2:n.1675C>A
XR_927461.3:n.1913C>A
NM_000181.4:c.1908C>A MANE Select	NP_000172.2:p.Pro636=
NM_001284290.2:c.1470C>A	NP_001271219.1:p.Pro490=
NM_001293104.2:c.1338C>A	NP_001280033.1:p.Pro446=
NM_001293105.2:c.1251C>A	NP_001280034.1:p.Pro417=
NR_120531.2:n.1853C>A