Canonical Allele Identifier: CA2000543959

Gene: DLAT PIH1D2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112061104C= , CM000673.2:g.112061104C=	GRCh38
NC_000011.9:g.111931828C= , CM000673.1:g.111931828C=	GRCh37
NC_000011.8:g.111437038C=	NCBI36
NG_013342.1:g.41291C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713569.1:c.1744C= (DLAT)	ENSP00000518862.1:p.Pro582=
ENST00000280346.11:c.1744C= (DLAT) MANE Select	ENSP00000280346.7:p.Pro582=
ENST00000527231.2:n.1791C= (DLAT)
ENST00000531306.2:c.1363C= (DLAT)	ENSP00000433432.2:p.Pro455=
ENST00000679368.1:c.*671C= (DLAT)	ENSP00000505314.1:n.*671C=
ENST00000679614.1:c.1141C= (DLAT)	ENSP00000506007.1:p.Pro381=
ENST00000679815.1:c.*1177C= (DLAT)	ENSP00000504880.1:n.*1177C=
ENST00000679878.1:c.1711C= (DLAT)	ENSP00000505567.1:p.Pro571=
ENST00000680010.1:c.*885C= (DLAT)	ENSP00000505768.1:n.*885C=
ENST00000680154.1:n.1075C= (DLAT)
ENST00000680331.1:c.1465C= (DLAT)	ENSP00000506707.1:p.Pro489=
ENST00000680411.1:c.1489C= (DLAT)	ENSP00000505915.1:p.Pro497=
ENST00000681316.1:c.1738C= (DLAT)	ENSP00000506560.1:p.Pro580=
ENST00000681328.1:c.1723C= (DLAT)	ENSP00000506355.1:p.Pro575=
ENST00000681339.1:c.1636C= (DLAT)	ENSP00000506167.1:p.Pro546=
ENST00000681638.1:c.*1097C= (DLAT)	ENSP00000506090.1:n.*1097C=
ENST00000280346.10:c.1744C= (DLAT)	ENSP00000280346.6:p.Pro582=
ENST00000393051.5:c.1429C= (DLAT)	ENSP00000376771.1:p.Pro477=
ENST00000527231.1:n.138C= (DLAT)
ENST00000531306.1:c.1240C= (DLAT)	ENSP00000433432.1:p.Pro414=
ENST00000533297.1:c.*1419C= (DLAT)	ENSP00000435374.1:n.*1419C=
NM_001931.4:c.1744C= (DLAT)	NP_001922.2:p.Pro582=
XM_011542590.1:c.814-310G= (PIH1D2)	XP_011540892.1:n.814-310G=
XM_011542592.1:c.814-8417G= (PIH1D2)	XP_011540894.1:n.814-8417G=
XM_011542647.1:c.1636C= (DLAT)	XP_011540949.1:p.Pro546=
XM_011542647.3:c.1636C= (DLAT)	XP_011540949.1:p.Pro546=
XM_017017202.2:c.814-5324G= (PIH1D2)	XP_016872691.1:n.814-5324G=
XM_017017203.2:c.814-310G= (PIH1D2)	XP_016872692.1:n.814-310G=
XM_017017204.2:c.814-5353G= (PIH1D2)	XP_016872693.1:n.814-5353G=
XM_017017205.2:c.814-8417G= (PIH1D2)	XP_016872694.1:n.814-8417G=
NM_001372031.1:c.1762C= (DLAT)	NP_001358960.1:p.Pro588=
NM_001372032.1:c.1738C= (DLAT)	NP_001358961.1:p.Pro580=
NM_001372033.1:c.1723C= (DLAT)	NP_001358962.1:p.Pro575=
NM_001372034.1:c.1711C= (DLAT)	NP_001358963.1:p.Pro571=
NM_001372035.1:c.1636C= (DLAT)	NP_001358964.1:p.Pro546=
NM_001372036.1:c.1618C= (DLAT)	NP_001358965.1:p.Pro540=
NM_001372037.1:c.1576C= (DLAT)	NP_001358966.1:p.Pro526=
NM_001372038.1:c.1465C= (DLAT)	NP_001358967.1:p.Pro489=
NM_001372039.1:c.1429C= (DLAT)	NP_001358968.1:p.Pro477=
NM_001372040.1:c.1363C= (DLAT)	NP_001358969.1:p.Pro455=
NM_001372041.1:c.1321C= (DLAT)	NP_001358970.1:p.Pro441=
NM_001372042.1:c.1282C= (DLAT)	NP_001358971.1:p.Pro428=
NM_001931.5:c.1744C= (DLAT) MANE Select	NP_001922.2:p.Pro582=
NR_164072.1:n.1621C= (DLAT)