Canonical Allele Identifier: CA367637735

Gene: GUSB

Linked Data

• gnomAD v4: 7-65961063-G-T
• MyVariant Identifiers: chr7:g.65426050G>T (hg19) ; chr7:g.65961063G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961063G>T , CM000669.2:g.65961063G>T	GRCh38
NC_000007.13:g.65426050G>T , CM000669.1:g.65426050G>T	GRCh37
NC_000007.12:g.65063485G>T	NCBI36
NG_016197.1:g.26252C>A
NG_051954.1:g.92965G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1790C>A MANE Select	ENSP00000302728.4:p.Ser597Ter
ENST00000304895.8:c.1790C>A	ENSP00000302728.4:p.Ser597Ter
ENST00000421103.5:c.1352C>A	ENSP00000391390.1:p.Ser451Ter
ENST00000430730.5:c.*1057C>A	ENSP00000411859.1:n.*1057C>A
ENST00000447929.5:c.*1170C>A	ENSP00000411262.1:n.*1170C>A
ENST00000466883.5:n.2180C>A
NM_000181.3:c.1790C>A	NP_000172.2:p.Ser597Ter
NM_001284290.1:c.1352C>A	NP_001271219.1:p.Ser451Ter
NM_001293104.1:c.1220C>A	NP_001280033.1:p.Ser407Ter
NM_001293105.1:c.1133C>A	NP_001280034.1:p.Ser378Ter
NR_120531.1:n.1836C>A
XM_005250297.3:c.1637C>A	XP_005250354.1:p.Ser546Ter
XM_011516113.1:c.1289C>A	XP_011514415.1:p.Ser430Ter
XM_011516114.1:c.1118C>A	XP_011514416.1:p.Ser373Ter
XM_005250297.4:c.1637C>A	XP_005250354.1:p.Ser546Ter
XM_011516114.2:c.1118C>A	XP_011514416.1:p.Ser373Ter
XM_017012091.1:c.1136C>A	XP_016867580.1:p.Ser379Ter
XM_017012092.1:c.1067C>A	XP_016867581.1:p.Ser356Ter
XM_017012093.2:c.965C>A	XP_016867582.1:p.Ser322Ter
XR_001744658.2:n.1597C>A
XR_001744659.2:n.1710C>A
XR_001744660.2:n.1642C>A
XR_001744661.2:n.1557C>A
XR_927461.3:n.1795C>A
NM_000181.4:c.1790C>A MANE Select	NP_000172.2:p.Ser597Ter
NM_001284290.2:c.1352C>A	NP_001271219.1:p.Ser451Ter
NM_001293104.2:c.1220C>A	NP_001280033.1:p.Ser407Ter
NM_001293105.2:c.1133C>A	NP_001280034.1:p.Ser378Ter
NR_120531.2:n.1735C>A