LDH info

Canonical Allele Identifier: CA256087
Gene: MECP2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 11810
ClinVar RCV Id: RCV000012579
dbSNP Id: rs28934905

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031364A>G , CM000685.2:g.154031364A>G GRCh38
NC_000023.10:g.153296815A>G , CM000685.1:g.153296815A>G GRCh37
NC_000023.9:g.152950009A>G NCBI36
NG_007107.2:g.110764T>C

Transcript Alleles

HGVS Amino-acid change
NM_001110792.1:c.500T>C VV NP_001104262.1:p.Phe167Ser
NM_001316337.1:c.185T>C VV NP_001303266.1:p.Phe62Ser
NM_004992.3:c.464T>C VV NP_004983.1:p.Phe155Ser
XM_005274681.3:c.464T>C XP_005274738.1:p.Phe155Ser
XM_005274682.3:c.185T>C XP_005274739.1:p.Phe62Ser
XM_005274683.3:c.185T>C XP_005274740.1:p.Phe62Ser
XM_006724819.2:c.-129+32T>C XP_006724882.1:p.=
XM_011531166.1:c.185T>C XP_011529468.1:p.Phe62Ser
XM_006724819.3:c.-129+32T>C XP_006724882.1:p.=
XM_011531166.2:c.185T>C XP_011529468.1:p.Phe62Ser
XM_024452383.1:c.185T>C XP_024308151.1:p.Phe62Ser
XM_024452384.1:c.185T>C XP_024308152.1:p.Phe62Ser
NM_001110792.2:c.500T>C VV MANE Preferred NP_001104262.1:p.Phe167Ser
NM_001316337.2:c.185T>C VV NP_001303266.1:p.Phe62Ser
NM_001369391.2:c.185T>C VV NP_001356320.1:p.Phe62Ser
NM_001369392.2:c.185T>C VV NP_001356321.1:p.Phe62Ser
NM_001369393.2:c.185T>C VV NP_001356322.1:p.Phe62Ser
NM_001369394.1:c.185T>C VV NP_001356323.1:p.Phe62Ser
ENST00000303391.10:c.464T>C ENSP00000301948.6:p.Phe155Ser
ENST00000407218.5:c.468+32T>C ENSP00000384865.2:p.=
ENST00000453960.6:c.500T>C ENSP00000395535.2:p.Phe167Ser
ENST00000486506.5:n.2812T>C
ENST00000611468.1:c.452T>C ENSP00000479736.1:p.Phe151Ser
ENST00000619732.4:c.464T>C ENSP00000480973.1:p.Phe155Ser
ENST00000622433.4:c.452T>C ENSP00000484470.1:p.Phe151Ser
ENST00000628176.2:c.432+32T>C ENSP00000486978.1:p.=