LDH info

Canonical Allele Identifier: CA15500383
Gene: CAV1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs10270569

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.116542728C>T , CM000669.2:g.116542728C>T GRCh38
NC_000007.13:g.116182782C>T , CM000669.1:g.116182782C>T GRCh37
NC_000007.12:g.115970018C>T NCBI36
NG_012051.1:g.22944C>T

Transcript Alleles

HGVS Amino-acid change
NM_001172895.1:c.102+16039C>T VV NP_001166366.1:p.=
NM_001172896.1:c.102+16039C>T VV NP_001166367.1:p.=
NM_001172897.1:c.102+16039C>T VV NP_001166368.1:p.=
NM_001753.4:c.195+16039C>T VV NP_001744.2:p.=
NM_001753.5:c.195+16039C>T VV MANE Preferred NP_001744.2:p.=
ENST00000341049.6:c.195+16039C>T ENSP00000339191.2:p.=
ENST00000393467.1:c.102+16039C>T ENSP00000377110.1:p.=
ENST00000393468.1:c.102+16039C>T ENSP00000377111.1:p.=
ENST00000393470.1:c.162+16039C>T ENSP00000377113.1:p.=
ENST00000405348.5:c.102+16039C>T ENSP00000384348.1:p.=
ENST00000451122.5:c.*647+16039C>T ENSP00000409541.1:p.=
ENST00000456473.5:c.102+16039C>T ENSP00000389033.1:p.=
ENST00000614113.4:c.102+16039C>T ENSP00000479447.1:p.=