Canonical Allele Identifier: CA228544256
Community Standard Title: NM_001931.5(DLAT):c.660+83A>C
Gene: DLAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112029028A>C , CM000673.2:g.112029028A>C GRCh38
NC_000011.9:g.111899752A>C , CM000673.1:g.111899752A>C GRCh37
NC_000011.8:g.111404962A>C NCBI36
NG_013342.1:g.9215A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001931.5:c.660+83A>C MANE Select NP_001922.2:n.660+83A>C
ENST00000280346.11:c.660+83A>C MANE Select ENSP00000280346.7:n.660+83A>C
NM_001372031.1:c.660+83A>C NP_001358960.1:n.660+83A>C
NM_001372032.1:c.660+83A>C NP_001358961.1:n.660+83A>C
NM_001372033.1:c.660+83A>C NP_001358962.1:n.660+83A>C
NM_001372034.1:c.627+83A>C NP_001358963.1:n.627+83A>C
NM_001372035.1:c.660+83A>C NP_001358964.1:n.660+83A>C
NM_001372036.1:c.534+83A>C NP_001358965.1:n.534+83A>C
NM_001372037.1:c.492+83A>C NP_001358966.1:n.492+83A>C
NM_001372038.1:c.381+2729A>C NP_001358967.1:n.381+2729A>C
NM_001372039.1:c.660+83A>C NP_001358968.1:n.660+83A>C
NM_001372040.1:c.364+2746A>C NP_001358969.1:n.364+2746A>C
NM_001372041.1:c.660+83A>C NP_001358970.1:n.660+83A>C
NM_001372042.1:c.198+83A>C NP_001358971.1:n.198+83A>C
NM_001931.4:c.660+83A>C NP_001922.2:n.660+83A>C
NR_164072.1:n.725+83A>C
ENST00000280346.10:c.660+83A>C ENSP00000280346.6:n.660+83A>C
ENST00000393051.5:c.660+83A>C ENSP00000376771.1:n.660+83A>C
ENST00000527231.2:n.707+83A>C
ENST00000531306.1:c.241+2746A>C ENSP00000433432.1:n.241+2746A>C
ENST00000531306.2:c.364+2746A>C ENSP00000433432.2:n.364+2746A>C
ENST00000533297.1:c.*335+83A>C ENSP00000435374.1:n.*335+83A>C
ENST00000679368.1:c.660+83A>C ENSP00000505314.1:n.660+83A>C
ENST00000679466.1:n.707+83A>C
ENST00000679614.1:c.57+83A>C ENSP00000506007.1:n.57+83A>C
ENST00000679815.1:c.*13+52A>C ENSP00000504880.1:n.*13+52A>C
ENST00000679829.1:n.707+83A>C
ENST00000679878.1:c.627+83A>C ENSP00000505567.1:n.627+83A>C
ENST00000680010.1:c.660+83A>C ENSP00000505768.1:n.660+83A>C
ENST00000680331.1:c.381+2729A>C ENSP00000506707.1:n.381+2729A>C
ENST00000680411.1:c.405+83A>C ENSP00000505915.1:n.405+83A>C
ENST00000681316.1:c.660+83A>C ENSP00000506560.1:n.660+83A>C
ENST00000681328.1:c.660+83A>C ENSP00000506355.1:n.660+83A>C
ENST00000681339.1:c.660+83A>C ENSP00000506167.1:n.660+83A>C
ENST00000681638.1:c.*13+52A>C ENSP00000506090.1:n.*13+52A>C
ENST00000713569.1:c.660+83A>C ENSP00000518862.1:n.660+83A>C
XM_011542647.1:c.660+83A>C XP_011540949.1:n.660+83A>C
XM_011542647.3:c.660+83A>C XP_011540949.1:n.660+83A>C