Canonical Allele Identifier: CA455449324
Gene: GUSB HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.65447030G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65982043G>A , CM000669.2:g.65982043G>A GRCh38
NC_000007.13:g.65447030G>A , CM000669.1:g.65447030G>A GRCh37
NC_000007.12:g.65084465G>A NCBI36
NG_016197.1:g.5272C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000304895.9:c.141C>T MANE Select ENSP00000302728.4:p.Phe47=
ENST00000304895.8:c.141C>T ENSP00000302728.4:p.Phe47=
ENST00000421103.5:c.141C>T ENSP00000391390.1:p.Phe47=
ENST00000430730.5:c.141C>T ENSP00000411859.1:p.Phe47=
ENST00000446111.1:c.141C>T ENSP00000416793.1:p.Phe47=
ENST00000447929.5:c.141C>T ENSP00000411262.1:p.Phe47=
ENST00000475316.5:n.46C>T
NM_000181.3:c.141C>T NP_000172.2:p.Phe47=
NM_001284290.1:c.141C>T NP_001271219.1:p.Phe47=
NM_001293104.1:c.-245C>T NP_001280033.1:p.=
NM_001293105.1:c.-189C>T NP_001280034.1:p.=
NR_120531.1:n.272C>T
XM_005250297.3:c.141C>T XP_005250354.1:p.Phe47=
XM_011516113.1:c.-189C>T XP_011514415.1:p.=
XR_927461.1:n.267C>T
XM_005250297.4:c.141C>T XP_005250354.1:p.Phe47=
XM_011516114.2:c.-545C>T XP_011514416.1:p.=
XM_017012091.1:c.-189C>T XP_016867580.1:p.=
XM_017012092.1:c.-245C>T XP_016867581.1:p.=
XM_017012093.2:c.-545C>T XP_016867582.1:p.=
XR_001744658.2:n.186C>T
XR_001744659.2:n.186C>T
XR_001744660.2:n.186C>T
XR_001744661.2:n.186C>T
XR_927461.3:n.186C>T
NM_000181.4:c.141C>T MANE Select NP_000172.2:p.Phe47=
NM_001284290.2:c.141C>T NP_001271219.1:p.Phe47=
NM_001293104.2:c.-245C>T NP_001280033.1:p.=
NM_001293105.2:c.-189C>T NP_001280034.1:p.=
NR_120531.2:n.171C>T