Canonical Allele Identifier: CA367637680

Gene: GUSB

Linked Data

• gnomAD v4: 7-65961053-T-G
• MyVariant Identifiers: chr7:g.65426040T>G (hg19) ; chr7:g.65961053T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961053T>G , CM000669.2:g.65961053T>G	GRCh38
NC_000007.13:g.65426040T>G , CM000669.1:g.65426040T>G	GRCh37
NC_000007.12:g.65063475T>G	NCBI36
NG_016197.1:g.26262A>C
NG_051954.1:g.92955T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1800A>C MANE Select	ENSP00000302728.4:p.Arg600Ser
ENST00000304895.8:c.1800A>C	ENSP00000302728.4:p.Arg600Ser
ENST00000421103.5:c.1362A>C	ENSP00000391390.1:p.Arg454Ser
ENST00000430730.5:c.*1067A>C	ENSP00000411859.1:n.*1067A>C
ENST00000447929.5:c.*1180A>C	ENSP00000411262.1:n.*1180A>C
ENST00000466883.5:n.2190A>C
NM_000181.3:c.1800A>C	NP_000172.2:p.Arg600Ser
NM_001284290.1:c.1362A>C	NP_001271219.1:p.Arg454Ser
NM_001293104.1:c.1230A>C	NP_001280033.1:p.Arg410Ser
NM_001293105.1:c.1143A>C	NP_001280034.1:p.Arg381Ser
NR_120531.1:n.1846A>C
XM_005250297.3:c.1647A>C	XP_005250354.1:p.Arg549Ser
XM_011516113.1:c.1299A>C	XP_011514415.1:p.Arg433Ser
XM_011516114.1:c.1128A>C	XP_011514416.1:p.Arg376Ser
XM_005250297.4:c.1647A>C	XP_005250354.1:p.Arg549Ser
XM_011516114.2:c.1128A>C	XP_011514416.1:p.Arg376Ser
XM_017012091.1:c.1146A>C	XP_016867580.1:p.Arg382Ser
XM_017012092.1:c.1077A>C	XP_016867581.1:p.Arg359Ser
XM_017012093.2:c.975A>C	XP_016867582.1:p.Arg325Ser
XR_001744658.2:n.1607A>C
XR_001744659.2:n.1720A>C
XR_001744660.2:n.1652A>C
XR_001744661.2:n.1567A>C
XR_927461.3:n.1805A>C
NM_000181.4:c.1800A>C MANE Select	NP_000172.2:p.Arg600Ser
NM_001284290.2:c.1362A>C	NP_001271219.1:p.Arg454Ser
NM_001293104.2:c.1230A>C	NP_001280033.1:p.Arg410Ser
NM_001293105.2:c.1143A>C	NP_001280034.1:p.Arg381Ser
NR_120531.2:n.1745A>C