Canonical Allele Identifier: CA512328145
Gene: DYRK1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.38884585G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.37512282G>A , CM000683.2:g.37512282G>A GRCh38
NC_000021.8:g.38884585G>A , CM000683.1:g.38884585G>A GRCh37
NC_000021.7:g.37806455G>A NCBI36
NG_009366.1:g.149727G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000338785.8:c.*419G>A ENSP00000342690.3:n.*419G>A
ENST00000398960.7:c.2043G>A ENSP00000381932.2:p.Gln681=
ENST00000643624.1:c.2016G>A ENSP00000493627.1:p.Gln672=
ENST00000644942.1:c.2043G>A ENSP00000494544.1:p.Gln681=
ENST00000646224.1:n.1458G>A
ENST00000646548.1:c.2016G>A ENSP00000495908.1:p.Gln672=
ENST00000647188.2:c.2016G>A MANE Select ENSP00000494572.1:p.Gln672=
ENST00000647425.1:c.2016G>A ENSP00000496748.1:p.Gln672=
ENST00000647504.1:c.1929G>A ENSP00000495571.1:p.Gln643=
ENST00000338785.7:c.*419G>A ENSP00000342690.3:n.*419G>A
ENST00000339659.8:c.2016G>A ENSP00000340373.3:p.Gln672=
ENST00000398960.6:c.2043G>A ENSP00000381932.2:p.Gln681=
NM_001396.3:c.2043G>A NP_001387.2:p.Gln681=
NM_101395.2:c.*419G>A NP_567824.1:n.*419G>A
NM_130436.2:c.2016G>A NP_569120.1:p.Gln672=
NM_130438.2:c.*328G>A NP_569122.1:n.*328G>A
XM_005260931.3:c.1956G>A XP_005260988.1:p.Gln652=
XM_005260933.3:c.1359G>A XP_005260990.1:p.Gln453=
XM_006723976.2:c.2043G>A XP_006724039.1:p.Gln681=
XM_006723977.2:c.2043G>A XP_006724040.1:p.Gln681=
XM_006723978.2:c.2043G>A XP_006724041.1:p.Gln681=
XM_006723979.2:c.2016G>A XP_006724042.1:p.Gln672=
XM_011529482.1:c.2064G>A XP_011527784.1:p.Gln688=
XM_011529483.1:c.2043G>A XP_011527785.1:p.Gln681=
XM_011529484.1:c.2037G>A XP_011527786.1:p.Gln679=
XM_011529485.1:c.1929G>A XP_011527787.1:p.Gln643=
NM_001347721.1:c.2016G>A NP_001334650.1:p.Gln672=
NM_001347722.1:c.2016G>A NP_001334651.1:p.Gln672=
NM_001347723.1:c.1929G>A NP_001334652.1:p.Gln643=
NM_001396.4:c.2043G>A NP_001387.2:p.Gln681=
XM_005260933.5:c.1359G>A XP_005260990.1:p.Gln453=
XM_006723976.3:c.2043G>A XP_006724039.1:p.Gln681=
XM_006723977.3:c.2043G>A XP_006724040.1:p.Gln681=
XM_006723978.3:c.2043G>A XP_006724041.1:p.Gln681=
XM_011529483.2:c.2043G>A XP_011527785.1:p.Gln681=
XM_017028284.1:c.2016G>A XP_016883773.1:p.Gln672=
XM_017028286.2:c.1956G>A XP_016883775.1:p.Gln652=
XM_024452057.1:c.1929G>A XP_024307825.1:p.Gln643=
NM_001347721.2:c.2016G>A MANE Select NP_001334650.1:p.Gln672=
NM_001347722.2:c.2016G>A NP_001334651.1:p.Gln672=
NM_001347723.2:c.1929G>A NP_001334652.1:p.Gln643=
NM_001396.5:c.2043G>A NP_001387.2:p.Gln681=