Canonical Allele Identifier: CA1139773490
Gene: MEAF6 HGNC NCBI

Linked Data

dbSNP Id: rs9253
gnomAD v4: 1-37493212-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.37493212C>A , CM000663.2:g.37493212C>A GRCh38
NC_000001.10:g.37958813C>A , CM000663.1:g.37958813C>A GRCh37
NC_000001.9:g.37731400C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000296214.10:c.*887G>T MANE Select ENSP00000296214.5:n.*887G>T
ENST00000296214.9:c.*887G>T ENSP00000296214.5:n.*887G>T
ENST00000373075.6:c.*887G>T ENSP00000362166.2:n.*887G>T
NM_001270875.1:c.*887G>T NP_001257804.1:n.*887G>T
NM_001270876.1:c.*557G>T NP_001257805.1:n.*557G>T
NM_022756.5:c.*887G>T NP_073593.2:n.*887G>T
NR_073090.1:n.1624G>T
NR_073091.1:n.1594G>T
NR_073092.1:n.1655G>T
NM_001270875.2:c.*887G>T NP_001257804.1:n.*887G>T
NM_001270876.2:c.*557G>T NP_001257805.1:n.*557G>T
NM_022756.6:c.*887G>T NP_073593.2:n.*887G>T
NR_073090.2:n.1571G>T
NR_073091.2:n.1541G>T
NR_073092.2:n.1602G>T
NM_001270875.3:c.*887G>T MANE Select NP_001257804.1:n.*887G>T
NM_001270876.3:c.*557G>T NP_001257805.1:n.*557G>T
NM_022756.7:c.*887G>T NP_073593.2:n.*887G>T
NR_073090.3:n.1571G>T
NR_073091.3:n.1541G>T
NR_073092.3:n.1602G>T