Canonical Allele Identifier: CA455439773

Gene: GUSB

Linked Data

• gnomAD v4: 7-65960987-C-T
• MyVariant Identifiers: chr7:g.65425974C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960987C>T , CM000669.2:g.65960987C>T	GRCh38
NC_000007.13:g.65425974C>T , CM000669.1:g.65425974C>T	GRCh37
NC_000007.12:g.65063409C>T	NCBI36
NG_016197.1:g.26328G>A
NG_051954.1:g.92889C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1866G>A MANE Select	ENSP00000302728.4:p.Leu622=
ENST00000304895.8:c.1866G>A	ENSP00000302728.4:p.Leu622=
ENST00000421103.5:c.1428G>A	ENSP00000391390.1:p.Leu476=
ENST00000430730.5:c.*1133G>A	ENSP00000411859.1:n.*1133G>A
ENST00000447929.5:c.*1246G>A	ENSP00000411262.1:n.*1246G>A
ENST00000466883.5:n.2256G>A
NM_000181.3:c.1866G>A	NP_000172.2:p.Leu622=
NM_001284290.1:c.1428G>A	NP_001271219.1:p.Leu476=
NM_001293104.1:c.1296G>A	NP_001280033.1:p.Leu432=
NM_001293105.1:c.1209G>A	NP_001280034.1:p.Leu403=
NR_120531.1:n.1912G>A
XM_005250297.3:c.1713G>A	XP_005250354.1:p.Leu571=
XM_011516113.1:c.1365G>A	XP_011514415.1:p.Leu455=
XM_011516114.1:c.1194G>A	XP_011514416.1:p.Leu398=
XM_005250297.4:c.1713G>A	XP_005250354.1:p.Leu571=
XM_011516114.2:c.1194G>A	XP_011514416.1:p.Leu398=
XM_017012091.1:c.1212G>A	XP_016867580.1:p.Leu404=
XM_017012092.1:c.1143G>A	XP_016867581.1:p.Leu381=
XM_017012093.2:c.1041G>A	XP_016867582.1:p.Leu347=
XR_001744658.2:n.1673G>A
XR_001744659.2:n.1786G>A
XR_001744660.2:n.1718G>A
XR_001744661.2:n.1633G>A
XR_927461.3:n.1871G>A
NM_000181.4:c.1866G>A MANE Select	NP_000172.2:p.Leu622=
NM_001284290.2:c.1428G>A	NP_001271219.1:p.Leu476=
NM_001293104.2:c.1296G>A	NP_001280033.1:p.Leu432=
NM_001293105.2:c.1209G>A	NP_001280034.1:p.Leu403=
NR_120531.2:n.1811G>A