Canonical Allele Identifier: CA455439259

Gene: GUSB

Linked Data

• gnomAD v4: 7-65960909-G-A
• MyVariant Identifiers: chr7:g.65425896G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960909G>A , CM000669.2:g.65960909G>A	GRCh38
NC_000007.13:g.65425896G>A , CM000669.1:g.65425896G>A	GRCh37
NC_000007.12:g.65063331G>A	NCBI36
NG_016197.1:g.26406C>T
NG_051954.1:g.92811G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1944C>T MANE Select	ENSP00000302728.4:p.Ser648=
ENST00000304895.8:c.1944C>T	ENSP00000302728.4:p.Ser648=
ENST00000421103.5:c.1506C>T	ENSP00000391390.1:p.Ser502=
ENST00000430730.5:c.*1211C>T	ENSP00000411859.1:n.*1211C>T
ENST00000447929.5:c.*1324C>T	ENSP00000411262.1:n.*1324C>T
ENST00000466883.5:n.2334C>T
NM_000181.3:c.1944C>T	NP_000172.2:p.Ser648=
NM_001284290.1:c.1506C>T	NP_001271219.1:p.Ser502=
NM_001293104.1:c.1374C>T	NP_001280033.1:p.Ser458=
NM_001293105.1:c.1287C>T	NP_001280034.1:p.Ser429=
NR_120531.1:n.1990C>T
XM_005250297.3:c.1791C>T	XP_005250354.1:p.Ser597=
XM_011516113.1:c.1443C>T	XP_011514415.1:p.Ser481=
XM_011516114.1:c.1272C>T	XP_011514416.1:p.Ser424=
XM_005250297.4:c.1791C>T	XP_005250354.1:p.Ser597=
XM_011516114.2:c.1272C>T	XP_011514416.1:p.Ser424=
XM_017012091.1:c.1290C>T	XP_016867580.1:p.Ser430=
XM_017012092.1:c.1221C>T	XP_016867581.1:p.Ser407=
XM_017012093.2:c.1119C>T	XP_016867582.1:p.Ser373=
XR_001744658.2:n.1751C>T
XR_001744659.2:n.1864C>T
XR_001744660.2:n.1796C>T
XR_001744661.2:n.1711C>T
XR_927461.3:n.1949C>T
NM_000181.4:c.1944C>T MANE Select	NP_000172.2:p.Ser648=
NM_001284290.2:c.1506C>T	NP_001271219.1:p.Ser502=
NM_001293104.2:c.1374C>T	NP_001280033.1:p.Ser458=
NM_001293105.2:c.1287C>T	NP_001280034.1:p.Ser429=
NR_120531.2:n.1889C>T