LDH info

Canonical Allele Identifier: CA10640771
Gene: PSEN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 314000
dbSNP Id: rs362344

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73223011C>T , CM000676.2:g.73223011C>T GRCh38
NC_000014.8:g.73689719C>T , CM000676.1:g.73689719C>T GRCh37
NC_000014.7:g.72759472C>T NCBI36
NG_007386.2:g.91541C>T

Transcript Alleles

HGVS Amino-acid change
NM_000021.3:c.*3722C>T VV NP_000012.1:p.=
NM_007318.2:c.*3722C>T VV NP_015557.2:p.=
XM_005267864.1:c.*3722C>T XP_005267921.1:p.=
XM_005267866.1:c.*3722C>T XP_005267923.1:p.=
XM_011536971.1:c.*3722C>T XP_011535273.1:p.=
XM_011536972.1:c.*3722C>T XP_011535274.1:p.=
XM_011536973.1:c.*3722C>T XP_011535275.1:p.=
XM_011536974.1:c.*3722C>T XP_011535276.1:p.=
NM_000021.4:c.*3722C>T VV MANE Preferred NP_000012.1:p.=
NM_007318.3:c.*3722C>T VV NP_015557.2:p.=
ENST00000324501.9:c.*3722C>T ENSP00000326366.5:p.=