Canonical Allele Identifier: CA10731720
Gene: DDAH1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.85321294G>A
GRCh37 chr1:g.85786977G>A
gnomAD v2:
1:85786977 G / A
gnomAD v3:
1:85321294 G / A
gnomAD v4:
chr1-85321294-G-A
Joint Max Group AF 0.39359328 (SAS)
Genomes Max Group AF 0.38620383 (SAS)
Exomes Max Group AF 0.39300547 (SAS)
dbSNP:
233115
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.85321294G>A , CM000663.2:g.85321294G>A GRCh38
NC_000001.10:g.85786977G>A , CM000663.1:g.85786977G>A GRCh37
NC_000001.9:g.85559565G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000284031.13:c.*158C>T MANE Select ENSP00000284031.8:n.*158C>T
ENST00000426972.8:c.*158C>T ENSP00000411189.4:n.*158C>T
ENST00000284031.12:c.*158C>T ENSP00000284031.8:n.*158C>T
ENST00000426972.7:c.*158C>T ENSP00000411189.4:n.*158C>T
ENST00000483110.5:n.1096C>T
ENST00000535924.6:c.*158C>T ENSP00000439045.1:n.*158C>T
ENST00000539042.3:c.*150+8C>T ENSP00000438604.1:n.*150+8C>T
NM_001134445.1:c.*158C>T NP_001127917.1:n.*158C>T
NM_012137.3:c.*158C>T NP_036269.1:n.*158C>T
XM_005270707.2:c.*158C>T XP_005270764.1:n.*158C>T
XM_005270709.2:c.*158C>T XP_005270766.1:n.*158C>T
XM_005270710.2:c.*158C>T XP_005270767.1:n.*158C>T
XM_006710544.1:c.*158C>T XP_006710607.1:n.*158C>T
XM_011541158.1:c.*158C>T XP_011539460.1:n.*158C>T
NM_001330655.1:c.*158C>T NP_001317584.1:n.*158C>T
XM_017000889.1:c.*158C>T XP_016856378.1:n.*158C>T
XM_024446130.1:c.*158C>T XP_024301898.1:n.*158C>T
NM_012137.4:c.*158C>T MANE Select NP_036269.1:n.*158C>T
NM_001134445.2:c.*158C>T NP_001127917.1:n.*158C>T
NM_001330655.2:c.*158C>T NP_001317584.1:n.*158C>T
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