Canonical Allele Identifier: CA524427808
Gene: DDAH1 HGNC NCBI

Linked Data

dbSNP Id: rs11161637
gnomAD v2: 1-86021169-A-T
gnomAD v3: 1-85555486-A-T
gnomAD v4: 1-85555486-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.85555486A>T , CM000663.2:g.85555486A>T GRCh38
NC_000001.10:g.86021169A>T , CM000663.1:g.86021169A>T GRCh37
NC_000001.9:g.85793757A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000426972.8:c.-123+22498T>A ENSP00000411189.4:n.-123+22498T>A
ENST00000426972.7:c.-123+22498T>A ENSP00000411189.4:n.-123+22498T>A
ENST00000483110.5:n.267+22498T>A
ENST00000535924.6:c.-123+22498T>A ENSP00000439045.1:n.-123+22498T>A
NM_001134445.1:c.-123+22498T>A NP_001127917.1:n.-123+22498T>A
XM_005270707.2:c.18+22498T>A XP_005270764.1:n.18+22498T>A
XM_011541158.1:c.-203+22498T>A XP_011539460.1:n.-203+22498T>A
XM_024446130.1:c.-123+21171T>A XP_024301898.1:n.-123+21171T>A
NM_001134445.2:c.-123+22498T>A NP_001127917.1:n.-123+22498T>A