LDH info

Canonical Allele Identifier: CA16041301
Gene: ASS1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371423
ClinVar RCV Id: RCV000410192
dbSNP Id: rs1057517259

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130471484G>T , CM000671.2:g.130471484G>T GRCh38
NC_000009.11:g.133346871G>T , CM000671.1:g.133346871G>T GRCh37
NC_000009.10:g.132336692G>T NCBI36
NG_011542.1:g.31778G>T

Transcript Alleles

HGVS Amino-acid change
NM_000050.4:c.567-1G>T VV NP_000041.2:p.=
NM_054012.3:c.567-1G>T VV NP_446464.1:p.=
XM_005272200.2:c.567-1G>T XP_005272257.1:p.=
XM_011518705.1:c.681-1G>T XP_011517007.1:p.=
XM_005272200.3:c.567-1G>T XP_005272257.1:p.=
XM_011518705.2:c.681-1G>T XP_011517007.1:p.=
XM_017014729.1:c.663-1G>T XP_016870218.1:p.=
NM_054012.4:c.567-1G>T VV MANE Preferred NP_446464.1:p.=
ENST00000352480.9:c.567-1G>T ENSP00000253004.6:p.=
ENST00000372393.7:c.567-1G>T ENSP00000361469.2:p.=
ENST00000372394.5:c.567-1G>T ENSP00000361471.1:p.=
ENST00000422569.5:c.567-1G>T ENSP00000394212.1:p.=
ENST00000443588.1:c.510-1G>T ENSP00000397785.1:p.=
ENST00000467695.5:n.276-1G>T
ENST00000493984.6:n.398-1G>T