Canonical Allele Identifier: CA8610070

Gene: DCAKD NMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.45024489C>T , CM000679.2:g.45024489C>T	GRCh38
NC_000017.10:g.43101857C>T , CM000679.1:g.43101857C>T	GRCh37
NC_000017.9:g.40457383C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310604.9:c.640G>A (DCAKD)	ENSP00000308515.5:p.Ala214Thr
ENST00000342350.10:c.640G>A (DCAKD)	ENSP00000341504.4:p.Ala214Thr
ENST00000452796.7:c.640G>A (DCAKD)	ENSP00000413483.1:p.Ala214Thr
ENST00000588499.6:c.640G>A (DCAKD)	ENSP00000467913.1:p.Ala214Thr
ENST00000614054.5:c.*284G>A (DCAKD)	ENSP00000478909.2:n.*284G>A
ENST00000684999.1:c.640G>A (DCAKD)	ENSP00000510563.1:p.Ala214Thr
ENST00000687525.1:c.640G>A (DCAKD)	ENSP00000509864.1:p.Ala214Thr
ENST00000687739.1:c.640G>A (DCAKD)	ENSP00000510018.1:p.Ala214Thr
ENST00000687955.1:c.*349G>A (DCAKD)	ENSP00000509609.1:n.*349G>A
ENST00000688577.1:c.*349G>A (DCAKD)	ENSP00000508805.1:n.*349G>A
ENST00000688601.1:c.*399G>A (DCAKD)	ENSP00000510526.1:n.*399G>A
ENST00000688897.1:c.640G>A (DCAKD)	ENSP00000509802.1:p.Ala214Thr
ENST00000690580.1:c.*349G>A (DCAKD)	ENSP00000509278.1:n.*349G>A
ENST00000691405.1:n.703G>A (DCAKD)
ENST00000691739.1:c.*349G>A (DCAKD)	ENSP00000509762.1:n.*349G>A
ENST00000692009.1:c.640G>A (DCAKD)	ENSP00000509683.1:p.Ala214Thr
ENST00000692137.1:c.496G>A (DCAKD)
ENST00000692180.1:c.640G>A (DCAKD)	ENSP00000510227.1:p.Ala214Thr
ENST00000693065.1:c.640G>A (DCAKD)	ENSP00000509729.1:p.Ala214Thr
ENST00000651974.1:c.640G>A (DCAKD) MANE Select	ENSP00000498268.1:p.Ala214Thr
ENST00000678938.1:c.-109-57155C>T (NMT1)	ENSP00000503621.1:n.-109-57155C>T
ENST00000310604.8:c.640G>A (DCAKD)	ENSP00000308515.5:p.Ala214Thr
ENST00000342350.9:c.640G>A (DCAKD)	ENSP00000341504.4:p.Ala214Thr
ENST00000452796.6:c.640G>A (DCAKD)	ENSP00000413483.1:p.Ala214Thr
ENST00000588499.5:c.640G>A (DCAKD)	ENSP00000467913.1:p.Ala214Thr
ENST00000614054.4:c.640G>A (DCAKD)	ENSP00000478909.1:p.Ala214Thr
NM_001128631.2:c.640G>A (DCAKD)	NP_001122103.1:p.Ala214Thr
NM_001288654.1:c.640G>A (DCAKD)	NP_001275583.1:p.Ala214Thr
NM_001288655.1:c.640G>A (DCAKD)	NP_001275584.1:p.Ala214Thr
NM_024819.5:c.640G>A (DCAKD)	NP_079095.3:p.Ala214Thr
XM_006722091.2:c.640G>A (DCAKD)	XP_006722154.1:p.Ala214Thr
XM_011525262.1:c.640G>A (DCAKD)	XP_011523564.1:p.Ala214Thr
NM_001288654.2:c.640G>A (DCAKD)	NP_001275583.1:p.Ala214Thr
NM_001321326.1:c.640G>A (DCAKD)	NP_001308255.1:p.Ala214Thr
NM_024819.6:c.640G>A (DCAKD)	NP_079095.3:p.Ala214Thr
XM_011525262.2:c.640G>A (DCAKD)	XP_011523564.1:p.Ala214Thr
XM_017025105.1:c.337G>A (DCAKD)	XP_016880594.1:p.Ala113Thr
NM_001288655.2:c.640G>A (DCAKD) MANE Select	NP_001275584.1:p.Ala214Thr
NM_001128631.3:c.640G>A (DCAKD)	NP_001122103.1:p.Ala214Thr
NM_001321326.2:c.640G>A (DCAKD)	NP_001308255.1:p.Ala214Thr
NM_024819.7:c.640G>A (DCAKD)	NP_079095.3:p.Ala214Thr