Canonical Allele Identifier: CA10558693

Gene: MECP2

Linked Data

• dbSNP Id: rs782160213
• ExAC: X:153363081 T / A
• gnomAD v2: X-153363081-T-A
• gnomAD v4: X-154097624-T-A
• MyVariant Identifiers: chrX:g.153363081T>A (hg19) ; chrX:g.154097624T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097624T>A , CM000685.2:g.154097624T>A	GRCh38
NC_000023.10:g.153363081T>A , CM000685.1:g.153363081T>A	GRCh37
NC_000023.9:g.153016275T>A	NCBI36
NG_007107.2:g.44498A>T
NG_007107.3:g.44480A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700484.1:n.2A>T
ENST00000303391.11:c.-119A>T MANE Plus Clinical	ENSP00000301948.6:n.-119A>T
ENST00000453960.7:c.42A>T MANE Select	ENSP00000395535.2:p.Gly14=
ENST00000676382.1:n.2A>T
ENST00000303391.10:c.-119A>T	ENSP00000301948.6:n.-119A>T
ENST00000369957.5:c.-119A>T	ENSP00000358973.4:n.-119A>T
ENST00000407218.5:c.42A>T	ENSP00000384865.2:p.Gly14=
ENST00000453960.6:c.42A>T	ENSP00000395535.2:p.Gly14=
ENST00000619732.4:c.-119A>T	ENSP00000480973.1:n.-119A>T
ENST00000627864.1:n.57A>T
ENST00000628176.2:c.-119A>T	ENSP00000486978.1:n.-119A>T
ENST00000631210.1:n.305+7157A>T
NM_001110792.1:c.42A>T	NP_001104262.1:p.Gly14=
NM_001316337.1:c.-566A>T	NP_001303266.1:n.-566A>T
NM_004992.3:c.-119A>T	NP_004983.1:n.-119A>T
XM_005274682.3:c.-510A>T	XP_005274739.1:n.-510A>T
NM_001110792.2:c.42A>T MANE Select	NP_001104262.1:p.Gly14=
NM_001316337.2:c.-566A>T	NP_001303266.1:n.-566A>T
NM_001369391.2:c.-861A>T	NP_001356320.1:n.-861A>T
NM_001369392.2:c.-510A>T	NP_001356321.1:n.-510A>T
NM_001369393.2:c.-386A>T	NP_001356322.1:n.-386A>T
NM_001386137.1:c.-791A>T	NP_001373066.1:n.-791A>T
NM_001386138.1:c.-679A>T	NP_001373067.1:n.-679A>T
NM_001386139.1:c.-555A>T	NP_001373068.1:n.-555A>T
NM_004992.4:c.-119A>T MANE Plus Clinical	NP_004983.1:n.-119A>T