Canonical Allele Identifier: CA2695105454

Gene: MECP2

Linked Data

• gnomAD v4: X-154097669-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097669C>A , CM000685.2:g.154097669C>A	GRCh38
NC_000023.10:g.153363126C>A , CM000685.1:g.153363126C>A	GRCh37
NC_000023.9:g.153016320C>A	NCBI36
NG_007107.2:g.44453G>T
NG_007107.3:g.44435G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.-164G>T MANE Plus Clinical	ENSP00000301948.6:n.-164G>T
ENST00000453960.7:c.-4G>T MANE Select	ENSP00000395535.2:n.-4G>T
ENST00000303391.10:c.-164G>T	ENSP00000301948.6:n.-164G>T
ENST00000407218.5:c.-4G>T	ENSP00000384865.2:n.-4G>T
ENST00000453960.6:c.-4G>T	ENSP00000395535.2:n.-4G>T
ENST00000619732.4:c.-164G>T	ENSP00000480973.1:n.-164G>T
ENST00000627864.1:n.12G>T
ENST00000628176.2:c.-164G>T	ENSP00000486978.1:n.-164G>T
ENST00000631210.1:n.305+7112G>T
NM_001110792.1:c.-4G>T	NP_001104262.1:n.-4G>T
NM_001316337.1:c.-611G>T	NP_001303266.1:n.-611G>T
NM_004992.3:c.-164G>T	NP_004983.1:n.-164G>T
XM_005274682.3:c.-555G>T	XP_005274739.1:n.-555G>T
NM_001110792.2:c.-4G>T MANE Select	NP_001104262.1:n.-4G>T
NM_001316337.2:c.-611G>T	NP_001303266.1:n.-611G>T
NM_001369391.2:c.-906G>T	NP_001356320.1:n.-906G>T
NM_001369392.2:c.-555G>T	NP_001356321.1:n.-555G>T
NM_001369393.2:c.-431G>T	NP_001356322.1:n.-431G>T
NM_001386137.1:c.-836G>T	NP_001373066.1:n.-836G>T
NM_001386138.1:c.-724G>T	NP_001373067.1:n.-724G>T
NM_001386139.1:c.-600G>T	NP_001373068.1:n.-600G>T
NM_004992.4:c.-164G>T MANE Plus Clinical	NP_004983.1:n.-164G>T