Canonical Allele Identifier: CA2361582508
Gene: EIF6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35279894A>T , CM000682.2:g.35279894A>T GRCh38
NC_000020.10:g.33867697A>T , CM000682.1:g.33867697A>T GRCh37
NC_000020.9:g.33331111A>T NCBI36
NG_023238.1:g.9898T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374450.8:c.546+48T>A MANE Select ENSP00000363574.3:n.546+48T>A
ENST00000675032.1:c.546+48T>A ENSP00000502429.1:n.546+48T>A
ENST00000374436.7:c.546+48T>A ENSP00000363559.3:n.546+48T>A
ENST00000374443.7:c.489+48T>A ENSP00000363566.3:n.489+48T>A
ENST00000374450.7:c.546+48T>A ENSP00000363574.3:n.546+48T>A
ENST00000415116.1:c.*104+48T>A ENSP00000415044.1:n.*104+48T>A
ENST00000440766.5:c.*104+48T>A ENSP00000395907.1:n.*104+48T>A
ENST00000444717.1:c.102+48T>A ENSP00000489186.1:n.102+48T>A
ENST00000447927.6:c.*43+48T>A ENSP00000411450.2:n.*43+48T>A
ENST00000621148.4:c.546+48T>A ENSP00000483289.1:n.546+48T>A
NM_001267810.1:c.546+48T>A NP_001254739.1:n.546+48T>A
NM_002212.3:c.546+48T>A NP_002203.1:n.546+48T>A
NM_181466.2:c.489+48T>A NP_852131.1:n.489+48T>A
NM_181468.2:c.546+48T>A NP_852133.1:n.546+48T>A
NR_052022.1:n.466+48T>A
NR_052023.1:n.635+48T>A
NR_052024.1:n.310+48T>A
NM_002212.4:c.546+48T>A MANE Select NP_002203.1:n.546+48T>A
NM_181466.3:c.489+48T>A NP_852131.1:n.489+48T>A
NR_052022.2:n.422+48T>A
NR_052023.2:n.591+48T>A