Canonical Allele Identifier: CA2579736948
Gene: MECP2 HGNC NCBI

Linked Data

gnomAD v4: X-154097741-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154097741C>T , CM000685.2:g.154097741C>T GRCh38
NC_000023.10:g.153363198C>T , CM000685.1:g.153363198C>T GRCh37
NC_000023.9:g.153016392C>T NCBI36
NG_007107.2:g.44381G>A
NG_007107.3:g.44363G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.10:c.-236G>A ENSP00000301948.6:n.-236G>A
ENST00000453960.6:c.-76G>A ENSP00000395535.2:n.-76G>A
ENST00000631210.1:n.305+7040G>A
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