Canonical Allele Identifier: CA2695105622
Gene: MECP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154097778G>A , CM000685.2:g.154097778G>A GRCh38
NC_000023.10:g.153363235G>A , CM000685.1:g.153363235G>A GRCh37
NC_000023.9:g.153016429G>A NCBI36
NG_007107.2:g.44344C>T
NG_007107.3:g.44326C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000631210.1:n.305+7003C>T