LDH info

Canonical Allele Identifier: CA10621946
Gene: SNCA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 350093
ClinVar RCV Id: RCV000360597
dbSNP Id: rs356165

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.89725735G>A , CM000666.2:g.89725735G>A GRCh38
NC_000004.11:g.90646886G>A , CM000666.1:g.90646886G>A GRCh37
NC_000004.10:g.90865909G>A NCBI36
NG_011851.1:g.117562C>T

Transcript Alleles

HGVS Amino-acid change
NM_000345.3:c.*893C>T VV NP_000336.1:p.=
NM_001146054.1:c.*893C>T VV NP_001139526.1:p.=
NM_001146055.1:c.*893C>T VV NP_001139527.1:p.=
NM_007308.2:c.*893C>T VV NP_009292.1:p.=
XM_011532208.1:c.*893C>T XP_011530510.1:p.=
XM_011532208.2:c.*893C>T XP_011530510.1:p.=
XM_017008562.1:c.*893C>T XP_016864051.1:p.=
XM_017008563.1:c.*893C>T XP_016864052.1:p.=
NM_000345.4:c.*893C>T VV MANE Preferred NP_000336.1:p.=
NM_001146054.2:c.*893C>T VV NP_001139526.1:p.=
NM_001146055.2:c.*893C>T VV NP_001139527.1:p.=
NM_001375285.1:c.*893C>T VV NP_001362214.1:p.=
NM_001375286.1:c.*893C>T VV NP_001362215.1:p.=
NM_001375287.1:c.*893C>T VV NP_001362216.1:p.=
NM_001375288.1:c.*893C>T VV NP_001362217.1:p.=
NM_001375290.1:c.*893C>T VV NP_001362219.1:p.=
NR_164674.1:n.1276+118C>T
NR_164675.1:n.1423+118C>T
NR_164676.1:n.1614C>T
ENST00000336904.7:c.*893C>T ENSP00000338345.3:p.=
ENST00000394989.6:c.*893C>T ENSP00000378440.2:p.=
ENST00000420646.6:c.*893C>T ENSP00000396241.2:p.=
ENST00000618500.4:c.*893C>T ENSP00000484044.1:p.=