Canonical Allele Identifier: CA786423630
Community Standard Title: NM_007083.5(NUDT6):c.498+6943A>T
Gene: NUDT6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.122905625T>A , CM000666.2:g.122905625T>A GRCh38
NC_000004.11:g.123826780T>A , CM000666.1:g.123826780T>A GRCh37
NC_000004.10:g.124046230T>A NCBI36
NG_030404.1:g.22380A>T

Transcript Alleles

HGVS Amino-acid Change
NM_007083.5:c.498+6943A>T MANE Select NP_009014.2:n.498+6943A>T
ENST00000304430.10:c.498+6943A>T MANE Select ENSP00000306070.5:n.498+6943A>T
NM_007083.4:c.498+6943A>T NP_009014.2:n.498+6943A>T
NM_198041.2:c.-10+6943A>T NP_932158.1:n.-10+6943A>T
NM_198041.3:c.-10+6943A>T NP_932158.1:n.-10+6943A>T
ENST00000304430.9:c.498+6943A>T ENSP00000306070.5:n.498+6943A>T
ENST00000339154.6:c.-10+6943A>T ENSP00000344011.2:n.-10+6943A>T
ENST00000502270.5:c.-10+6943A>T ENSP00000424117.1:n.-10+6943A>T
ENST00000503370.5:c.*494+6943A>T ENSP00000422698.1:n.*494+6943A>T
ENST00000510735.1:c.109-7947A>T
ENST00000512116.5:c.*589+6943A>T ENSP00000420843.1:n.*589+6943A>T
ENST00000513517.1:n.5153+6943A>T