LDH info

Canonical Allele Identifier: CA170272
Gene: MECP2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 143504
dbSNP Id: rs267608440

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154032360G>A , CM000685.2:g.154032360G>A GRCh38
NC_000023.10:g.153297811G>A , CM000685.1:g.153297811G>A GRCh37
NC_000023.9:g.152951005G>A NCBI36
NG_007107.2:g.109768C>T

Transcript Alleles

HGVS Amino-acid change
NM_001110792.1:c.260C>T VV NP_001104262.1:p.Pro87Leu
NM_001316337.1:c.-56C>T VV NP_001303266.1:p.=
NM_004992.3:c.224C>T VV NP_004983.1:p.Pro75Leu
XM_005274681.3:c.224C>T XP_005274738.1:p.Pro75Leu
XM_005274682.3:c.-56C>T XP_005274739.1:p.=
XM_005274683.3:c.-56C>T XP_005274740.1:p.=
XM_011531166.1:c.-56C>T XP_011529468.1:p.=
XM_006724819.3:c.-337C>T XP_006724882.1:p.=
XM_011531166.2:c.-56C>T XP_011529468.1:p.=
XM_024452383.1:c.-56C>T XP_024308151.1:p.=
XM_024452384.1:c.-56C>T XP_024308152.1:p.=
ENST00000303391.10:c.224C>T ENSP00000301948.6:p.Pro75Leu
ENST00000369957.5:c.*278C>T ENSP00000358973.4:p.=
ENST00000407218.5:c.260C>T ENSP00000384865.2:p.Pro87Leu
ENST00000453960.6:c.260C>T ENSP00000395535.2:p.Pro87Leu
ENST00000486506.5:n.2572C>T
ENST00000611468.1:c.212C>T ENSP00000479736.1:p.Pro71Leu
ENST00000619732.4:c.224C>T ENSP00000480973.1:p.Pro75Leu
ENST00000622433.4:c.212C>T ENSP00000484470.1:p.Pro71Leu
ENST00000628176.2:c.224C>T ENSP00000486978.1:p.Pro75Leu