Canonical Allele Identifier: CA2200260996
Community Standard Title: NM_000693.4(ALDH1A3):c.475+1G=
Gene: ALDH1A3 HGNC NCBI
ALDH1A3-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.100892640G= , CM000677.2:g.100892640G= GRCh38
NC_000015.9:g.101432845G= , CM000677.1:g.101432845G= GRCh37
NC_000015.8:g.99250368G= NCBI36
NG_012254.1:g.17837G=

Transcript Alleles

HGVS Amino-acid Change
NM_000693.4:c.475+1G= (ALDH1A3) MANE Select NP_000684.2:n.475+1G=
ENST00000329841.10:c.475+1G= (ALDH1A3) MANE Select ENSP00000332256.5:n.475+1G=
NM_000693.3:c.475+1G= (ALDH1A3) NP_000684.2:n.475+1G=
NM_001293815.1:c.346-3293G= (ALDH1A3) NP_001280744.1:n.346-3293G=
NM_001293815.2:c.346-3293G= (ALDH1A3) NP_001280744.1:n.346-3293G=
NR_135827.1:n.3907C= (ALDH1A3-AS1)
ENST00000329841.9:c.475+1G= (ALDH1A3) ENSP00000332256.5:n.475+1G=
ENST00000346623.6:c.346-3293G= (ALDH1A3) ENSP00000343294.6:n.346-3293G=
ENST00000558033.5:c.346-305G= (ALDH1A3) ENSP00000454107.1:n.346-305G=
ENST00000561338.5:c.391+1G= (ALDH1A3) ENSP00000452789.1:n.391+1G=