LDH info

Canonical Allele Identifier: CA342761
Gene: SRCAP HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 30908
dbSNP Id: rs199469464

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30737370C>T , CM000678.2:g.30737370C>T GRCh38
NC_000016.9:g.30748691C>T , CM000678.1:g.30748691C>T GRCh37
NC_000016.8:g.30656192C>T NCBI36
NG_032135.1:g.43230C>T

Transcript Alleles

HGVS Amino-acid change
NM_006662.2:c.7330C>T VV NP_006653.2:p.Arg2444Ter
NM_006662.3:c.7330C>T VV MANE Preferred NP_006653.2:p.Arg2444Ter
ENST00000262518.8:c.7330C>T ENSP00000262518.4:p.Arg2444Ter
ENST00000380361.7:n.6799C>T ENSP00000369719.3:p.Arg2267Ter
ENST00000395059.6:c.6553C>T ENSP00000378499.3:p.Arg2185Ter