LDH info

Canonical Allele Identifier: CA16042222
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372160
ClinVar RCV Id: RCV000412646
dbSNP Id: rs1057517666

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49611932G>C , CM000672.2:g.49611932G>C GRCh38
NC_000010.10:g.50819978G>C , CM000672.1:g.50819978G>C GRCh37
NC_000010.9:g.50489984G>C NCBI36
NG_011797.1:g.7838G>C
NG_053144.1:g.6632G>C

Transcript Alleles

HGVS Amino-acid change
NM_003055.2:c.1192G>C (SLC18A3) VV NP_003046.2:p.Asp398His
NM_020984.3:c.-69+2733G>C (CHAT) VV NP_066264.3:p.=
NM_003055.3:c.1192G>C (SLC18A3) VV NP_003046.2:p.Asp398His
NM_020984.4:c.-69+2733G>C (CHAT) VV NP_066264.4:p.=
ENST00000339797.5:c.-69+2733G>C ENSP00000343486.1:p.=
ENST00000374115.4:c.1192G>C ENSP00000363229.3:p.Asp398His