LDH info

Canonical Allele Identifier: CA8232696
Gene: PIEZO1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs201226914

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88732511G>T , CM000678.2:g.88732511G>T GRCh38
NC_000016.9:g.88798919G>T , CM000678.1:g.88798919G>T GRCh37
NC_000016.8:g.87326420G>T NCBI36
NG_042229.1:g.57710C>A

Transcript Alleles

HGVS Amino-acid change
NM_001142864.2:n.2815C>A VV NP_001136336.2:p.Leu939Met
NM_001142864.3:c.2815C>A VV NP_001136336.2:p.Leu939Met
NR_103774.1:n.269+1063G>T
NM_001142864.4:c.2815C>A VV NP_001136336.2:p.Leu939Met
ENST00000301015.13:c.2815C>A ENSP00000301015.9:p.Leu939Met
ENST00000490756.1:n.399C>A