Canonical Allele Identifier: CA645228308

Gene: MECP2

Linked Data

• dbSNP Id: rs1242306433
• gnomAD v2: X-153363319-C-T
• gnomAD v3: X-154097862-C-T
• gnomAD v4: X-154097862-C-T
• MyVariant Identifiers: chrX:g.153363319C>T (hg19) ; chrX:g.154097862C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097862C>T , CM000685.2:g.154097862C>T	GRCh38
NC_000023.10:g.153363319C>T , CM000685.1:g.153363319C>T	GRCh37
NC_000023.9:g.153016513C>T	NCBI36
NG_007107.2:g.44260G>A
NG_007107.3:g.44242G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631210.1:n.305+6919G>A