Canonical Allele Identifier: CA876710
Community Standard Title: NM_001365792.1(DAB1):c.43G>A (p.Ala15Thr)
Gene: DAB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.57290988C>T , CM000663.2:g.57290988C>T GRCh38
NC_000001.10:g.57756660C>T , CM000663.1:g.57756660C>T GRCh37
NC_000001.9:g.57529248C>T NCBI36
NG_046914.2:g.964560G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001365792.1:c.43G>A MANE Select NP_001352721.1:p.Ala15Thr
ENST00000371236.7:c.43G>A MANE Select ENSP00000360280.1:p.Ala15Thr
NM_001353980.1:c.43G>A NP_001340909.1:p.Ala15Thr
NM_001353980.2:c.43G>A NP_001340909.1:p.Ala15Thr
NM_001353983.1:c.43G>A NP_001340912.1:p.Ala15Thr
NM_001353983.2:c.43G>A NP_001340912.1:p.Ala15Thr
NM_001353985.1:c.43G>A NP_001340914.1:p.Ala15Thr
NM_001353985.2:c.43G>A NP_001340914.1:p.Ala15Thr
NM_001353986.1:c.43G>A NP_001340915.1:p.Ala15Thr
NM_001353986.2:c.43G>A NP_001340915.1:p.Ala15Thr
NM_001365793.1:c.43G>A NP_001352722.1:p.Ala15Thr
NM_001365794.1:c.43G>A NP_001352723.1:p.Ala15Thr
NM_001365794.2:c.43G>A NP_001352723.1:p.Ala15Thr
NM_001365795.1:c.43G>A NP_001352724.1:p.Ala15Thr
NM_001365795.2:c.43G>A NP_001352724.1:p.Ala15Thr
NM_001365796.1:c.43G>A NP_001352725.1:p.Ala15Thr
NM_001379461.1:c.43G>A NP_001366390.1:p.Ala15Thr
NM_001379462.1:c.43G>A NP_001366391.1:p.Ala15Thr
NM_021080.3:c.43G>A NP_066566.3:p.Ala15Thr
NM_021080.4:c.43G>A NP_066566.3:p.Ala15Thr
NM_021080.5:c.43G>A NP_066566.3:p.Ala15Thr
ENST00000332102.10:c.43G>A ENSP00000329120.6:p.Ala15Thr
ENST00000371230.1:c.43G>A ENSP00000360274.1:p.Ala15Thr
ENST00000371231.5:c.43G>A ENSP00000360275.1:p.Ala15Thr
ENST00000371232.8:c.43G>A ENSP00000360276.4:p.Ala15Thr
ENST00000371236.6:c.43G>A ENSP00000360280.1:p.Ala15Thr
ENST00000414851.6:c.43G>A ENSP00000387581.3:p.Ala15Thr
ENST00000420954.6:c.43G>A ENSP00000395296.2:p.Ala15Thr
ENST00000473821.1:n.685G>A
ENST00000485760.5:n.804G>A