Canonical Allele Identifier: CA389865986
Community Standard Title: NM_001079520.2(DACT1):c.930G>T (p.Gln310His)
Gene: DACT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.58645664G>T , CM000676.2:g.58645664G>T GRCh38
NC_000014.8:g.59112382G>T , CM000676.1:g.59112382G>T GRCh37
NC_000014.7:g.58182135G>T NCBI36
NG_032025.1:g.16597G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001079520.2:c.930G>T MANE Select NP_001072988.1:p.Gln310His
ENST00000395153.8:c.930G>T MANE Select ENSP00000378582.3:p.Gln310His
NM_001079520.1:c.930G>T NP_001072988.1:p.Gln310His
NM_016651.5:c.1041G>T NP_057735.2:p.Gln347His
NM_016651.6:c.1041G>T NP_057735.2:p.Gln347His
NR_046093.1:n.703G>T
NR_046093.2:n.710G>T
NR_046095.1:n.1011G>T
NR_165650.1:n.821G>T
NR_165651.1:n.1090G>T
NR_165652.1:n.1122G>T
ENST00000335867.4:c.1041G>T ENSP00000337439.4:p.Gln347His
ENST00000395153.7:c.930G>T ENSP00000378582.3:p.Gln310His
ENST00000421793.5:c.198G>T ENSP00000404297.1:p.Gln66His
ENST00000541264.2:c.198G>T ENSP00000442850.2:p.Gln66His
ENST00000556859.5:c.198G>T ENSP00000451598.1:p.Gln66His
ENST00000707126.1:c.930G>T ENSP00000516754.1:p.Gln310His
XM_006720167.2:c.198G>T XP_006720230.1:p.Gln66His
XM_006720167.3:c.198G>T XP_006720230.1:p.Gln66His
XR_943914.1:n.52C>A