Canonical Allele Identifier: CA873291033
Gene: MECP2 HGNC NCBI

Linked Data

dbSNP Id: rs1342072082
MyVariant Identifiers: chrX:g.154029802T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154029802T>C , CM000685.2:g.154029802T>C GRCh38
NC_000023.10:g.153295253T>C , CM000685.1:g.153295253T>C GRCh37
NC_000023.9:g.152948447T>C NCBI36
NG_007107.2:g.112326A>G
NG_007107.3:g.112302A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.*565A>G MANE Plus Clinical ENSP00000301948.6:n.*565A>G
ENST00000453960.7:c.*565A>G MANE Select ENSP00000395535.2:n.*565A>G
ENST00000303391.10:c.*565A>G ENSP00000301948.6:n.*565A>G
ENST00000619732.4:c.*492A>G ENSP00000480973.1:n.*492A>G
NM_004992.3:c.*565A>G NP_004983.1:n.*565A>G
XM_005274681.3:c.*565A>G XP_005274738.1:n.*565A>G
XM_005274682.3:c.*565A>G XP_005274739.1:n.*565A>G
XM_005274683.3:c.*565A>G XP_005274740.1:n.*565A>G
XM_006724819.2:c.*565A>G XP_006724882.1:n.*565A>G
XM_011531166.1:c.*565A>G XP_011529468.1:n.*565A>G
XM_006724819.3:c.*565A>G XP_006724882.1:n.*565A>G
XM_011531166.2:c.*565A>G XP_011529468.1:n.*565A>G
XM_024452383.1:c.*565A>G XP_024308151.1:n.*565A>G
XM_024452384.1:c.*565A>G XP_024308152.1:n.*565A>G
NM_001110792.2:c.*565A>G MANE Select NP_001104262.1:n.*565A>G
NM_001316337.2:c.*565A>G NP_001303266.1:n.*565A>G
NM_001369391.2:c.*565A>G NP_001356320.1:n.*565A>G
NM_001369392.2:c.*565A>G NP_001356321.1:n.*565A>G
NM_001369393.2:c.*565A>G NP_001356322.1:n.*565A>G
NM_001369394.2:c.*565A>G NP_001356323.1:n.*565A>G
NM_001386137.1:c.*565A>G NP_001373066.1:n.*565A>G
NM_001386138.1:c.*565A>G NP_001373067.1:n.*565A>G
NM_001386139.1:c.*565A>G NP_001373068.1:n.*565A>G
NM_004992.4:c.*565A>G MANE Plus Clinical NP_004983.1:n.*565A>G