Canonical Allele Identifier: CA1138567053
Gene: MECP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154097892C>T , CM000685.2:g.154097892C>T GRCh38
NC_000023.10:g.153363350C>T , CM000685.1:g.153363350C>T GRCh37
NC_000023.9:g.153016544C>T NCBI36
NG_007107.2:g.44229G>A
NG_007107.3:g.44212G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000631210.1:n.305+6889G>A