Canonical Allele Identifier: CA2695105557
Gene: MECP2 HGNC NCBI

Linked Data

gnomAD v4: X-154097728-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154097728C>T , CM000685.2:g.154097728C>T GRCh38
NC_000023.10:g.153363185C>T , CM000685.1:g.153363185C>T GRCh37
NC_000023.9:g.153016379C>T NCBI36
NG_007107.2:g.44394G>A
NG_007107.3:g.44376G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.10:c.-223G>A ENSP00000301948.6:n.-223G>A
ENST00000453960.6:c.-63G>A ENSP00000395535.2:n.-63G>A
ENST00000619732.4:c.-223G>A ENSP00000480973.1:n.-223G>A
ENST00000628176.2:c.-223G>A ENSP00000486978.1:n.-223G>A
ENST00000631210.1:n.305+7053G>A
NM_001110792.1:c.-63G>A NP_001104262.1:n.-63G>A
NM_001316337.1:c.-670G>A NP_001303266.1:n.-670G>A
NM_004992.3:c.-223G>A NP_004983.1:n.-223G>A
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