LDH info

Canonical Allele Identifier: CA1103615
Gene: FLG HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 279933
ClinVar RCV Id: RCV000293549
dbSNP Id: rs149484917

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152304939G>C , CM000663.2:g.152304939G>C GRCh38
NC_000001.10:g.152277415G>C , CM000663.1:g.152277415G>C GRCh37
NC_000001.9:g.150544039G>C NCBI36
NG_016190.1:g.25265C>G , LRG_1028:g.25265C>G

Transcript Alleles

HGVS Amino-acid change
NM_002016.1:c.9947C>G , LRG_1028t1:c.9947C>G NP_002007.1:p.Ser3316Ter
XM_011509329.1:c.9108+839C>G XP_011507631.1:p.=
ENST00000368799.1:c.9947C>G ENSP00000357789.1:p.Ser3316Ter