Canonical Allele Identifier: CA2695105570
Gene: MECP2 HGNC NCBI

Linked Data

gnomAD v4: X-154097737-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154097737C>A , CM000685.2:g.154097737C>A GRCh38
NC_000023.10:g.153363194C>A , CM000685.1:g.153363194C>A GRCh37
NC_000023.9:g.153016388C>A NCBI36
NG_007107.2:g.44385G>T
NG_007107.3:g.44367G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.10:c.-232G>T ENSP00000301948.6:n.-232G>T
ENST00000453960.6:c.-72G>T ENSP00000395535.2:n.-72G>T
ENST00000628176.2:c.-232G>T ENSP00000486978.1:n.-232G>T
ENST00000631210.1:n.305+7044G>T
Search 100 bp 5'
Search 100 bp 3'