Canonical Allele Identifier: CA43907208

Gene: LDAH

Linked Data

• dbSNP Id: rs1032395440
• gnomAD v3: 2-20703188-C-T
• gnomAD v4: 2-20703188-C-T
• MyVariant Identifiers: chr2:g.20902948C>T (hg19) ; chr2:g.20703188C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20703188C>T , CM000664.2:g.20703188C>T	GRCh38
NC_000002.11:g.20902948C>T , CM000664.1:g.20902948C>T	GRCh37
NC_000002.10:g.20766429C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000237822.8:c.704-1536G>A MANE Select	ENSP00000237822.3:n.704-1536G>A
ENST00000237822.7:c.704-1536G>A	ENSP00000237822.3:n.704-1536G>A
ENST00000381090.7:c.704-1536G>A	ENSP00000370480.3:n.704-1536G>A
ENST00000403006.6:c.314-1536G>A	ENSP00000384267.1:n.314-1536G>A
ENST00000432947.1:c.314-1536G>A	ENSP00000396911.1:n.314-1536G>A
ENST00000435420.6:c.578-1536G>A	ENSP00000388635.3:n.578-1536G>A
ENST00000440866.6:c.469-1536G>A	ENSP00000400340.2:n.469-1536G>A
ENST00000470099.1:n.22-1536G>A
ENST00000541941.5:c.314-1536G>A	ENSP00000440570.1:n.314-1536G>A
ENST00000619656.4:c.314-1536G>A	ENSP00000483067.1:n.314-1536G>A
ENST00000626491.2:c.560-1536G>A	ENSP00000487592.1:n.560-1536G>A
NM_001282719.1:c.578-1536G>A	NP_001269648.1:n.578-1536G>A
NM_001282720.1:c.560-1536G>A	NP_001269649.1:n.560-1536G>A
NM_001282721.1:c.314-1536G>A	NP_001269650.1:n.314-1536G>A
NM_001282722.1:c.314-1536G>A	NP_001269651.1:n.314-1536G>A
NM_001282723.1:c.469-1536G>A	NP_001269652.1:n.469-1536G>A
NM_001282724.1:c.343-1536G>A	NP_001269653.1:n.343-1536G>A
NM_021925.3:c.704-1536G>A	NP_068744.1:n.704-1536G>A
NR_104233.1:n.409-1536G>A
XM_011533014.1:c.722-1536G>A	XP_011531316.1:n.722-1536G>A
XR_939700.1:n.825-1536G>A
XR_939701.1:n.825-1536G>A
XR_939702.1:n.825-1536G>A
XR_939703.1:n.590-1536G>A
XM_011533014.2:c.722-1536G>A	XP_011531316.1:n.722-1536G>A
XR_001738874.1:n.827-1536G>A
XR_001738875.2:n.827-1536G>A
XR_001738876.2:n.759-1536G>A
XR_001738877.2:n.759-1536G>A
XR_001738878.2:n.577-1536G>A
XR_001738879.2:n.524-1536G>A
XR_939700.2:n.827-1536G>A
XR_939701.2:n.827-1536G>A
XR_939702.3:n.827-1536G>A
XR_939703.2:n.592-1536G>A
NM_021925.4:c.704-1536G>A MANE Select	NP_068744.1:n.704-1536G>A
NM_001282720.2:c.560-1536G>A	NP_001269649.1:n.560-1536G>A
NM_001282724.2:c.343-1536G>A	NP_001269653.1:n.343-1536G>A
NR_104233.2:n.380-1536G>A
NM_001282719.2:c.578-1536G>A	NP_001269648.1:n.578-1536G>A
NM_001282721.2:c.314-1536G>A	NP_001269650.1:n.314-1536G>A
NM_001282722.2:c.314-1536G>A	NP_001269651.1:n.314-1536G>A
NM_001282723.2:c.469-1536G>A	NP_001269652.1:n.469-1536G>A