Canonical Allele Identifier: CA601742823

Gene: DLAT PIH1D2

Linked Data

• dbSNP Id: rs1555183196
• gnomAD v2: 11-111931756-C-T
• gnomAD v3: 11-112061032-C-T
• gnomAD v4: 11-112061032-C-T
• MyVariant Identifiers: chr11:g.111931756C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112061032C>T , CM000673.2:g.112061032C>T	GRCh38
NC_000011.9:g.111931756C>T , CM000673.1:g.111931756C>T	GRCh37
NC_000011.8:g.111436966C>T	NCBI36
NG_013342.1:g.41219C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713569.1:c.1678-6C>T (DLAT)	ENSP00000518862.1:n.1678-6C>T
ENST00000280346.11:c.1678-6C>T (DLAT) MANE Select	ENSP00000280346.7:n.1678-6C>T
ENST00000527231.2:n.1725-6C>T (DLAT)
ENST00000531306.2:c.1297-6C>T (DLAT)	ENSP00000433432.2:n.1297-6C>T
ENST00000679368.1:c.*605-6C>T (DLAT)	ENSP00000505314.1:n.*605-6C>T
ENST00000679614.1:c.1075-6C>T (DLAT)	ENSP00000506007.1:n.1075-6C>T
ENST00000679815.1:c.*1111-6C>T (DLAT)	ENSP00000504880.1:n.*1111-6C>T
ENST00000679878.1:c.1645-6C>T (DLAT)	ENSP00000505567.1:n.1645-6C>T
ENST00000680010.1:c.*819-6C>T (DLAT)	ENSP00000505768.1:n.*819-6C>T
ENST00000680154.1:n.1009-6C>T (DLAT)
ENST00000680331.1:c.1399-6C>T (DLAT)	ENSP00000506707.1:n.1399-6C>T
ENST00000680411.1:c.1423-6C>T (DLAT)	ENSP00000505915.1:n.1423-6C>T
ENST00000681316.1:c.1672-6C>T (DLAT)	ENSP00000506560.1:n.1672-6C>T
ENST00000681328.1:c.1657-6C>T (DLAT)	ENSP00000506355.1:n.1657-6C>T
ENST00000681339.1:c.1570-6C>T (DLAT)	ENSP00000506167.1:n.1570-6C>T
ENST00000681638.1:c.*1031-6C>T (DLAT)	ENSP00000506090.1:n.*1031-6C>T
ENST00000280346.10:c.1678-6C>T (DLAT)	ENSP00000280346.6:n.1678-6C>T
ENST00000393051.5:c.1363-6C>T (DLAT)	ENSP00000376771.1:n.1363-6C>T
ENST00000527231.1:n.72-6C>T (DLAT)
ENST00000531306.1:c.1174-6C>T (DLAT)	ENSP00000433432.1:n.1174-6C>T
ENST00000533297.1:c.*1353-6C>T (DLAT)	ENSP00000435374.1:n.*1353-6C>T
NM_001931.4:c.1678-6C>T (DLAT)	NP_001922.2:n.1678-6C>T
XM_011542590.1:c.814-238G>A (PIH1D2)	XP_011540892.1:n.814-238G>A
XM_011542592.1:c.814-8345G>A (PIH1D2)	XP_011540894.1:n.814-8345G>A
XM_011542647.1:c.1570-6C>T (DLAT)	XP_011540949.1:n.1570-6C>T
XM_011542647.3:c.1570-6C>T (DLAT)	XP_011540949.1:n.1570-6C>T
XM_017017202.2:c.814-5252G>A (PIH1D2)	XP_016872691.1:n.814-5252G>A
XM_017017203.2:c.814-238G>A (PIH1D2)	XP_016872692.1:n.814-238G>A
XM_017017204.2:c.814-5281G>A (PIH1D2)	XP_016872693.1:n.814-5281G>A
XM_017017205.2:c.814-8345G>A (PIH1D2)	XP_016872694.1:n.814-8345G>A
NM_001372031.1:c.1696-6C>T (DLAT)	NP_001358960.1:n.1696-6C>T
NM_001372032.1:c.1672-6C>T (DLAT)	NP_001358961.1:n.1672-6C>T
NM_001372033.1:c.1657-6C>T (DLAT)	NP_001358962.1:n.1657-6C>T
NM_001372034.1:c.1645-6C>T (DLAT)	NP_001358963.1:n.1645-6C>T
NM_001372035.1:c.1570-6C>T (DLAT)	NP_001358964.1:n.1570-6C>T
NM_001372036.1:c.1552-6C>T (DLAT)	NP_001358965.1:n.1552-6C>T
NM_001372037.1:c.1510-6C>T (DLAT)	NP_001358966.1:n.1510-6C>T
NM_001372038.1:c.1399-6C>T (DLAT)	NP_001358967.1:n.1399-6C>T
NM_001372039.1:c.1363-6C>T (DLAT)	NP_001358968.1:n.1363-6C>T
NM_001372040.1:c.1297-6C>T (DLAT)	NP_001358969.1:n.1297-6C>T
NM_001372041.1:c.1255-6C>T (DLAT)	NP_001358970.1:n.1255-6C>T
NM_001372042.1:c.1216-6C>T (DLAT)	NP_001358971.1:n.1216-6C>T
NM_001931.5:c.1678-6C>T (DLAT) MANE Select	NP_001922.2:n.1678-6C>T
NR_164072.1:n.1555-6C>T (DLAT)