Canonical Allele Identifier: CA228546487
Community Standard Title: NM_001931.5(DLAT):c.759A>G (p.Ala253=)
Gene: DLAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112033502A>G , CM000673.2:g.112033502A>G GRCh38
NC_000011.9:g.111904226A>G , CM000673.1:g.111904226A>G GRCh37
NC_000011.8:g.111409436A>G NCBI36
NG_013342.1:g.13689A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001931.5:c.759A>G MANE Select NP_001922.2:p.Ala253=
ENST00000280346.11:c.759A>G MANE Select ENSP00000280346.7:p.Ala253=
NM_001372031.1:c.759A>G NP_001358960.1:p.Ala253=
NM_001372032.1:c.759A>G NP_001358961.1:p.Ala253=
NM_001372033.1:c.759A>G NP_001358962.1:p.Ala253=
NM_001372034.1:c.726A>G NP_001358963.1:p.Ala242=
NM_001372035.1:c.759A>G NP_001358964.1:p.Ala253=
NM_001372036.1:c.633A>G NP_001358965.1:p.Ala211=
NM_001372037.1:c.591A>G NP_001358966.1:p.Ala197=
NM_001372038.1:c.480A>G NP_001358967.1:p.Ala160=
NM_001372039.1:c.660+4557A>G NP_001358968.1:n.660+4557A>G
NM_001372040.1:c.378A>G NP_001358969.1:p.Ala126=
NM_001372041.1:c.660+4557A>G NP_001358970.1:n.660+4557A>G
NM_001372042.1:c.297A>G NP_001358971.1:p.Ala99=
NM_001931.4:c.759A>G NP_001922.2:p.Ala253=
NR_164072.1:n.824A>G
ENST00000280346.10:c.759A>G ENSP00000280346.6:p.Ala253=
ENST00000393051.5:c.660+4557A>G ENSP00000376771.1:n.660+4557A>G
ENST00000527231.2:n.806A>G
ENST00000531306.1:c.255A>G ENSP00000433432.1:p.Ala85=
ENST00000531306.2:c.378A>G ENSP00000433432.2:p.Ala126=
ENST00000533297.1:c.*434A>G ENSP00000435374.1:n.*434A>G
ENST00000679368.1:c.759A>G ENSP00000505314.1:p.Ala253=
ENST00000679466.1:n.806A>G
ENST00000679614.1:c.156A>G ENSP00000506007.1:p.Ala52=
ENST00000679815.1:c.*112A>G ENSP00000504880.1:n.*112A>G
ENST00000679829.1:n.806A>G
ENST00000679878.1:c.726A>G ENSP00000505567.1:p.Ala242=
ENST00000680010.1:c.661-3771A>G ENSP00000505768.1:n.661-3771A>G
ENST00000680331.1:c.480A>G ENSP00000506707.1:p.Ala160=
ENST00000680411.1:c.504A>G ENSP00000505915.1:p.Ala168=
ENST00000681316.1:c.759A>G ENSP00000506560.1:p.Ala253=
ENST00000681328.1:c.759A>G ENSP00000506355.1:p.Ala253=
ENST00000681339.1:c.759A>G ENSP00000506167.1:p.Ala253=
ENST00000681638.1:c.*112A>G ENSP00000506090.1:n.*112A>G
ENST00000713569.1:c.759A>G ENSP00000518862.1:p.Ala253=
XM_011542647.1:c.759A>G XP_011540949.1:p.Ala253=
XM_011542647.3:c.759A>G XP_011540949.1:p.Ala253=