Canonical Allele Identifier: CA2695105697
Gene: MECP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154097842C>A , CM000685.2:g.154097842C>A GRCh38
NC_000023.10:g.153363299C>A , CM000685.1:g.153363299C>A GRCh37
NC_000023.9:g.153016493C>A NCBI36
NG_007107.2:g.44280G>T
NG_007107.3:g.44262G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000631210.1:n.305+6939G>T