LDH info

Canonical Allele Identifier: CA127515
Gene: APOE HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 17871
ClinVar RCV Id: RCV000019457
dbSNP Id: rs28931576

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44907894A>G , CM000681.2:g.44907894A>G GRCh38
NC_000019.9:g.45411151A>G , CM000681.1:g.45411151A>G GRCh37
NC_000019.8:g.50102991A>G NCBI36
NG_007084.2:g.7113A>G

Transcript Alleles

HGVS Amino-acid change
NM_000041.3:c.178A>G VV NP_000032.1:p.Thr60Ala
NM_001302688.1:c.256A>G VV NP_001289617.1:p.Thr86Ala
NM_001302689.1:c.178A>G VV NP_001289618.1:p.Thr60Ala
NM_001302690.1:c.178A>G VV NP_001289619.1:p.Thr60Ala
NM_001302691.1:c.178A>G VV NP_001289620.1:p.Thr60Ala
NM_000041.4:c.178A>G VV MANE Preferred NP_000032.1:p.Thr60Ala
NM_001302688.2:c.256A>G VV NP_001289617.1:p.Thr86Ala
NM_001302689.2:c.178A>G VV NP_001289618.1:p.Thr60Ala
NM_001302691.2:c.178A>G VV NP_001289620.1:p.Thr60Ala
ENST00000252486.8:c.178A>G ENSP00000252486.3:p.Thr60Ala
ENST00000425718.1:c.178A>G ENSP00000410423.1:p.Thr60Ala
ENST00000434152.5:c.256A>G ENSP00000413653.2:p.Thr86Ala
ENST00000446996.5:c.178A>G ENSP00000413135.1:p.Thr60Ala