LDH info

Canonical Allele Identifier: CA252364
Gene: ASPA HGNC NCBI
SPATA22 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2615
ClinVar RCV Id: RCV000002733
dbSNP Id: rs104894552

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3498892A>T , CM000679.2:g.3498892A>T GRCh38
NC_000017.10:g.3402186A>T , CM000679.1:g.3402186A>T GRCh37
NC_000017.9:g.3348936A>T NCBI36
NG_008399.1:g.29783A>T
NG_008399.2:g.30247A>T

Transcript Alleles

HGVS Amino-acid change
NM_000049.2:c.746A>T (ASPA) VV NP_000040.1:p.Asp249Val
NM_001128085.1:c.746A>T (ASPA) VV NP_001121557.1:p.Asp249Val
XM_005256829.1:c.-74+14520T>A (SPATA22) XP_005256886.1:p.=
XM_005256830.1:c.-74+14520T>A (SPATA22) XP_005256887.1:p.=
XM_006721527.2:c.746A>T (ASPA) XP_006721590.1:p.Asp249Val
XR_934026.1:n.1013A>T (ASPA)
NM_001321336.1:c.-74+14520T>A (SPATA22) VV NP_001308265.1:p.=
NM_001321337.1:c.-74+14520T>A (SPATA22) VV NP_001308266.1:p.=
XM_017024661.1:c.746A>T (ASPA) XP_016880150.1:p.Asp249Val
XM_024450764.1:c.746A>T (ASPA) XP_024306532.1:p.Asp249Val
XR_934026.2:n.1013A>T (ASPA)
NM_000049.3:c.746A>T (ASPA) VV NP_000040.1:p.Asp249Val
NM_000049.4:c.746A>T (ASPA) VV NP_000040.1:p.Asp249Val
ENST00000263080.2:c.746A>T ENSP00000263080.2:p.Asp249Val
ENST00000456349.6:c.746A>T ENSP00000409976.2:p.Asp249Val
ENST00000541913.5:c.-74+14520T>A ENSP00000441920.1:p.=
ENST00000570318.1:c.-74+14719T>A ENSP00000459147.1:p.=