Canonical Allele Identifier: CA3795611

Linked Data

ClinVar Variation Id: 356589
ClinVar RCV Id: RCV000291928
dbSNP Id: rs73732316
gnomAD v2: 6-39872224-T-C
gnomAD v3: 6-39904448-T-C
gnomAD v4: 6-39904448-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.39904448T>C , CM000668.2:g.39904448T>C GRCh38
NC_000006.11:g.39872224T>C , CM000668.1:g.39872224T>C GRCh37
NC_000006.10:g.39980202T>C NCBI36
NG_009297.1:g.35031A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274867.9:c.*2411T>C (DAAM2) MANE Select ENSP00000274867.4:n.*2411T>C
ENST00000340692.10:c.*1909A>G (MOCS1) MANE Select ENSP00000344794.5:n.*1909A>G
ENST00000645522.1:n.3973A>G (MOCS1)
ENST00000274867.8:c.*2411T>C (DAAM2) ENSP00000274867.4:n.*2411T>C
ENST00000373181.8:c.842-186A>G (MOCS1) ENSP00000362277.4:n.842-186A>G
ENST00000373186.8:c.*2677A>G (MOCS1) ENSP00000362282.4:n.*2677A>G
ENST00000398904.6:c.*2411T>C (DAAM2) ENSP00000381876.2:n.*2411T>C
ENST00000538976.5:c.*2411T>C (DAAM2) ENSP00000437808.1:n.*2411T>C
ENST00000631498.1:n.6313T>C (DAAM2)
NM_001075098.3:c.*2677A>G (MOCS1) NP_001068566.1:n.*2677A>G
NM_001201427.1:c.*2411T>C (DAAM2) NP_001188356.1:n.*2411T>C
NM_005943.5:c.*2677A>G (MOCS1) NP_005934.2:n.*2677A>G
NM_015345.3:c.*2411T>C (DAAM2) NP_056160.2:n.*2411T>C
NR_033233.1:n.3779A>G (MOCS1)
XM_006715039.2:c.*2411T>C (DAAM2) XP_006715102.2:n.*2411T>C
XM_006715040.2:c.*2411T>C (DAAM2) XP_006715103.2:n.*2411T>C
XM_006715042.1:c.*2411T>C (DAAM2) XP_006715105.1:n.*2411T>C
XM_006715043.1:c.*2411T>C (DAAM2) XP_006715106.1:n.*2411T>C
XM_006715044.2:c.*2411T>C (DAAM2) XP_006715107.1:n.*2411T>C
XM_006715045.2:c.*2411T>C (DAAM2) XP_006715108.1:n.*2411T>C
XM_006715046.2:c.*2411T>C (DAAM2) XP_006715109.1:n.*2411T>C
XM_011514447.1:c.*2411T>C (DAAM2) XP_011512749.1:n.*2411T>C
XM_011514635.1:c.1151-186A>G (MOCS1) XP_011512937.1:n.1151-186A>G
XR_926225.1:n.2817-186A>G (MOCS1)
NM_001358529.1:c.*1909A>G (MOCS1) NP_001345458.1:n.*1909A>G
NM_001358530.1:c.*1909A>G (MOCS1) NP_001345459.1:n.*1909A>G
NM_001358531.1:c.*1909A>G (MOCS1) NP_001345460.1:n.*1909A>G
NM_001358533.1:c.*2677A>G (MOCS1) NP_001345462.1:n.*2677A>G
NM_001358534.1:c.*2677A>G (MOCS1) NP_001345463.1:n.*2677A>G
XM_006715039.3:c.*2411T>C (DAAM2) XP_006715102.3:n.*2411T>C
XM_006715040.3:c.*2411T>C (DAAM2) XP_006715103.3:n.*2411T>C
XM_006715042.2:c.*2411T>C (DAAM2) XP_006715105.1:n.*2411T>C
XM_006715043.2:c.*2411T>C (DAAM2) XP_006715106.1:n.*2411T>C
XM_006715045.3:c.*2411T>C (DAAM2) XP_006715108.1:n.*2411T>C
XM_006715046.4:c.*2411T>C (DAAM2) XP_006715109.1:n.*2411T>C
XM_017010630.1:c.*2411T>C (DAAM2) XP_016866119.1:n.*2411T>C
NM_001201427.2:c.*2411T>C (DAAM2) MANE Select NP_001188356.1:n.*2411T>C
NM_001358530.2:c.*1909A>G (MOCS1) MANE Select NP_001345459.1:n.*1909A>G
NM_001075098.4:c.*2677A>G (MOCS1) NP_001068566.1:n.*2677A>G
NM_001358529.2:c.*1909A>G (MOCS1) NP_001345458.1:n.*1909A>G
NM_001358531.2:c.*1909A>G (MOCS1) NP_001345460.1:n.*1909A>G
NM_001358533.2:c.*2677A>G (MOCS1) NP_001345462.1:n.*2677A>G
NR_033233.2:n.3690A>G (MOCS1)
NM_001358534.2:c.*2677A>G (MOCS1) NP_001345463.1:n.*2677A>G
NM_005943.6:c.*2677A>G (MOCS1) NP_005934.2:n.*2677A>G
NM_015345.4:c.*2411T>C (DAAM2) NP_056160.2:n.*2411T>C