Canonical Allele Identifier: CA2695105453
Gene: MECP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154097668T>G , CM000685.2:g.154097668T>G GRCh38
NC_000023.10:g.153363125T>G , CM000685.1:g.153363125T>G GRCh37
NC_000023.9:g.153016319T>G NCBI36
NG_007107.2:g.44454A>C
NG_007107.3:g.44436A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.-163A>C MANE Plus Clinical ENSP00000301948.6:n.-163A>C
ENST00000453960.7:c.-3A>C MANE Select ENSP00000395535.2:n.-3A>C
ENST00000303391.10:c.-163A>C ENSP00000301948.6:n.-163A>C
ENST00000407218.5:c.-3A>C ENSP00000384865.2:n.-3A>C
ENST00000453960.6:c.-3A>C ENSP00000395535.2:n.-3A>C
ENST00000619732.4:c.-163A>C ENSP00000480973.1:n.-163A>C
ENST00000627864.1:n.13A>C
ENST00000628176.2:c.-163A>C ENSP00000486978.1:n.-163A>C
ENST00000631210.1:n.305+7113A>C
NM_001110792.1:c.-3A>C NP_001104262.1:n.-3A>C
NM_001316337.1:c.-610A>C NP_001303266.1:n.-610A>C
NM_004992.3:c.-163A>C NP_004983.1:n.-163A>C
XM_005274682.3:c.-554A>C XP_005274739.1:n.-554A>C
NM_001110792.2:c.-3A>C MANE Select NP_001104262.1:n.-3A>C
NM_001316337.2:c.-610A>C NP_001303266.1:n.-610A>C
NM_001369391.2:c.-905A>C NP_001356320.1:n.-905A>C
NM_001369392.2:c.-554A>C NP_001356321.1:n.-554A>C
NM_001369393.2:c.-430A>C NP_001356322.1:n.-430A>C
NM_001386137.1:c.-835A>C NP_001373066.1:n.-835A>C
NM_001386138.1:c.-723A>C NP_001373067.1:n.-723A>C
NM_001386139.1:c.-599A>C NP_001373068.1:n.-599A>C
NM_004992.4:c.-163A>C MANE Plus Clinical NP_004983.1:n.-163A>C