LDH info

Canonical Allele Identifier: CA256095
Gene: MECP2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 11845
ClinVar RCV Id: RCV000012619
dbSNP Id: rs179363901

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154097661G>A , CM000685.2:g.154097661G>A GRCh38
NC_000023.10:g.153363118G>A , CM000685.1:g.153363118G>A GRCh37
NC_000023.9:g.153016312G>A NCBI36
NG_007107.2:g.44461C>T

Transcript Alleles

HGVS Amino-acid change
NM_001110792.1:c.5C>T VV NP_001104262.1:p.Ala2Val
NM_001316337.1:c.-603C>T VV NP_001303266.1:p.=
NM_004992.3:c.-156C>T VV NP_004983.1:p.=
XM_005274682.3:c.-547C>T XP_005274739.1:p.=
ENST00000303391.10:c.-156C>T ENSP00000301948.6:p.=
ENST00000369957.5:c.-156C>T ENSP00000358973.4:p.=
ENST00000407218.5:c.5C>T ENSP00000384865.2:p.Ala2Val
ENST00000453960.6:c.5C>T ENSP00000395535.2:p.Ala2Val
ENST00000619732.4:c.-156C>T ENSP00000480973.1:p.=
ENST00000627864.1:n.20C>T
ENST00000628176.2:c.-156C>T ENSP00000486978.1:p.=
ENST00000631210.1:n.305+7120C>T