Canonical Allele Identifier: CA2695105446
Gene: MECP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154097666T>A , CM000685.2:g.154097666T>A GRCh38
NC_000023.10:g.153363123T>A , CM000685.1:g.153363123T>A GRCh37
NC_000023.9:g.153016317T>A NCBI36
NG_007107.2:g.44456A>T
NG_007107.3:g.44438A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.-161A>T MANE Plus Clinical ENSP00000301948.6:n.-161A>T
ENST00000453960.7:c.-1A>T MANE Select ENSP00000395535.2:n.-1A>T
ENST00000303391.10:c.-161A>T ENSP00000301948.6:n.-161A>T
ENST00000407218.5:c.-1A>T ENSP00000384865.2:n.-1A>T
ENST00000453960.6:c.-1A>T ENSP00000395535.2:n.-1A>T
ENST00000619732.4:c.-161A>T ENSP00000480973.1:n.-161A>T
ENST00000627864.1:n.15A>T
ENST00000628176.2:c.-161A>T ENSP00000486978.1:n.-161A>T
ENST00000631210.1:n.305+7115A>T
NM_001110792.1:c.-1A>T NP_001104262.1:n.-1A>T
NM_001316337.1:c.-608A>T NP_001303266.1:n.-608A>T
NM_004992.3:c.-161A>T NP_004983.1:n.-161A>T
XM_005274682.3:c.-552A>T XP_005274739.1:n.-552A>T
NM_001110792.2:c.-1A>T MANE Select NP_001104262.1:n.-1A>T
NM_001316337.2:c.-608A>T NP_001303266.1:n.-608A>T
NM_001369391.2:c.-903A>T NP_001356320.1:n.-903A>T
NM_001369392.2:c.-552A>T NP_001356321.1:n.-552A>T
NM_001369393.2:c.-428A>T NP_001356322.1:n.-428A>T
NM_001386137.1:c.-833A>T NP_001373066.1:n.-833A>T
NM_001386138.1:c.-721A>T NP_001373067.1:n.-721A>T
NM_001386139.1:c.-597A>T NP_001373068.1:n.-597A>T
NM_004992.4:c.-161A>T MANE Plus Clinical NP_004983.1:n.-161A>T