Canonical Allele Identifier: CA8610177

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.45030177A>G , CM000679.2:g.45030177A>G GRCh38
NC_000017.10:g.43107545A>G , CM000679.1:g.43107545A>G GRCh37
NC_000017.9:g.40463071A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000310604.9:c.319T>C (DCAKD) ENSP00000308515.5:p.Tyr107His
ENST00000342350.10:c.319T>C (DCAKD) ENSP00000341504.4:p.Tyr107His
ENST00000452796.7:c.319T>C (DCAKD) ENSP00000413483.1:p.Tyr107His
ENST00000588499.6:c.319T>C (DCAKD) ENSP00000467913.1:p.Tyr107His
ENST00000614054.5:c.458T>C (DCAKD) ENSP00000478909.2:p.Ile153Thr
ENST00000684937.1:c.*167T>C (DCAKD) ENSP00000510351.1:n.*167T>C
ENST00000684999.1:c.319T>C (DCAKD) ENSP00000510563.1:p.Tyr107His
ENST00000686754.1:c.319T>C (DCAKD) ENSP00000510394.1:p.Tyr107His
ENST00000687463.1:c.*28T>C (DCAKD) ENSP00000510527.1:n.*28T>C
ENST00000687525.1:c.319T>C (DCAKD) ENSP00000509864.1:p.Tyr107His
ENST00000687739.1:c.319T>C (DCAKD) ENSP00000510018.1:p.Tyr107His
ENST00000687955.1:c.*28T>C (DCAKD) ENSP00000509609.1:n.*28T>C
ENST00000688577.1:c.*28T>C (DCAKD) ENSP00000508805.1:n.*28T>C
ENST00000688601.1:c.*28T>C (DCAKD) ENSP00000510526.1:n.*28T>C
ENST00000688897.1:c.319T>C (DCAKD) ENSP00000509802.1:p.Tyr107His
ENST00000690580.1:c.*28T>C (DCAKD) ENSP00000509278.1:n.*28T>C
ENST00000691405.1:n.382T>C (DCAKD)
ENST00000691739.1:c.*28T>C (DCAKD) ENSP00000509762.1:n.*28T>C
ENST00000692009.1:c.319T>C (DCAKD) ENSP00000509683.1:p.Tyr107His
ENST00000692137.1:c.3T>C (DCAKD)
ENST00000692180.1:c.319T>C (DCAKD) ENSP00000510227.1:p.Tyr107His
ENST00000693065.1:c.319T>C (DCAKD) ENSP00000509729.1:p.Tyr107His
ENST00000651974.1:c.319T>C (DCAKD) MANE Select ENSP00000498268.1:p.Tyr107His
ENST00000678938.1:c.-109-51467A>G (NMT1) ENSP00000503621.1:n.-109-51467A>G
ENST00000310604.8:c.319T>C (DCAKD) ENSP00000308515.5:p.Tyr107His
ENST00000342350.9:c.319T>C (DCAKD) ENSP00000341504.4:p.Tyr107His
ENST00000452796.6:c.319T>C (DCAKD) ENSP00000413483.1:p.Tyr107His
ENST00000588499.5:c.319T>C (DCAKD) ENSP00000467913.1:p.Tyr107His
ENST00000593094.1:c.319T>C (DCAKD) ENSP00000468809.1:p.Tyr107His
ENST00000614054.4:c.319T>C (DCAKD) ENSP00000478909.1:p.Tyr107His
NM_001128631.2:c.319T>C (DCAKD) NP_001122103.1:p.Tyr107His
NM_001288654.1:c.319T>C (DCAKD) NP_001275583.1:p.Tyr107His
NM_001288655.1:c.319T>C (DCAKD) NP_001275584.1:p.Tyr107His
NM_024819.5:c.319T>C (DCAKD) NP_079095.3:p.Tyr107His
XM_006722091.2:c.319T>C (DCAKD) XP_006722154.1:p.Tyr107His
XM_011525262.1:c.319T>C (DCAKD) XP_011523564.1:p.Tyr107His
XM_011525263.1:c.*28T>C (DCAKD) XP_011523565.1:n.*28T>C
NM_001288654.2:c.319T>C (DCAKD) NP_001275583.1:p.Tyr107His
NM_001321326.1:c.319T>C (DCAKD) NP_001308255.1:p.Tyr107His
NM_024819.6:c.319T>C (DCAKD) NP_079095.3:p.Tyr107His
XM_011525262.2:c.319T>C (DCAKD) XP_011523564.1:p.Tyr107His
XM_017025105.1:c.16T>C (DCAKD) XP_016880594.1:p.Tyr6His
XR_002958070.1:n.719T>C (DCAKD)
NM_001288655.2:c.319T>C (DCAKD) MANE Select NP_001275584.1:p.Tyr107His
NM_001128631.3:c.319T>C (DCAKD) NP_001122103.1:p.Tyr107His
NM_001321326.2:c.319T>C (DCAKD) NP_001308255.1:p.Tyr107His
NM_024819.7:c.319T>C (DCAKD) NP_079095.3:p.Tyr107His