Canonical Allele Identifier: CA389871308
Community Standard Title: NM_001079520.2(DACT1):c.2122G>A (p.Glu708Lys)
Gene: DACT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.58646856G>A , CM000676.2:g.58646856G>A GRCh38
NC_000014.8:g.59113574G>A , CM000676.1:g.59113574G>A GRCh37
NC_000014.7:g.58183327G>A NCBI36
NG_032025.1:g.17789G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001079520.2:c.2122G>A MANE Select NP_001072988.1:p.Glu708Lys
ENST00000395153.8:c.2122G>A MANE Select ENSP00000378582.3:p.Glu708Lys
NM_001079520.1:c.2122G>A NP_001072988.1:p.Glu708Lys
NM_016651.5:c.2233G>A NP_057735.2:p.Glu745Lys
NM_016651.6:c.2233G>A NP_057735.2:p.Glu745Lys
NR_046093.1:n.1895G>A
NR_046093.2:n.1902G>A
NR_046095.1:n.2203G>A
NR_165650.1:n.2013G>A
NR_165651.1:n.2282G>A
NR_165652.1:n.2314G>A
ENST00000335867.4:c.2233G>A ENSP00000337439.4:p.Glu745Lys
ENST00000395153.7:c.2122G>A ENSP00000378582.3:p.Glu708Lys
ENST00000541264.2:c.1390G>A ENSP00000442850.2:p.Glu464Lys
ENST00000556859.5:c.1390G>A ENSP00000451598.1:p.Glu464Lys
ENST00000707126.1:c.2122G>A ENSP00000516754.1:p.Glu708Lys
XM_006720167.2:c.1390G>A XP_006720230.1:p.Glu464Lys
XM_006720167.3:c.1390G>A XP_006720230.1:p.Glu464Lys