Canonical Allele Identifier: CA9830912

Gene: EIF6

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35280058C>T , CM000682.2:g.35280058C>T	GRCh38
NC_000020.10:g.33867861C>T , CM000682.1:g.33867861C>T	GRCh37
NC_000020.9:g.33331275C>T	NCBI36
NG_023238.1:g.9734G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374450.8:c.430G>A MANE Select	ENSP00000363574.3:p.Asp144Asn
ENST00000675032.1:c.430G>A	ENSP00000502429.1:p.Asp144Asn
ENST00000374436.7:c.430G>A	ENSP00000363559.3:p.Asp144Asn
ENST00000374443.7:c.373G>A	ENSP00000363566.3:p.Asp125Asn
ENST00000374450.7:c.430G>A	ENSP00000363574.3:p.Asp144Asn
ENST00000415116.1:c.549G>A	ENSP00000415044.1:p.Pro183=
ENST00000440766.5:c.168G>A	ENSP00000395907.1:p.Pro56=
ENST00000447927.6:c.254G>A	ENSP00000411450.2:p.Arg85Gln
ENST00000621148.4:c.430G>A	ENSP00000483289.1:p.Asp144Asn
NM_001267810.1:c.430G>A	NP_001254739.1:p.Asp144Asn
NM_002212.3:c.430G>A	NP_002203.1:p.Asp144Asn
NM_181466.2:c.373G>A	NP_852131.1:p.Asp125Asn
NM_181468.2:c.430G>A	NP_852133.1:p.Asp144Asn
NR_052022.1:n.350G>A
NR_052023.1:n.519G>A
NR_052024.1:n.194G>A
NM_002212.4:c.430G>A MANE Select	NP_002203.1:p.Asp144Asn
NM_181466.3:c.373G>A	NP_852131.1:p.Asp125Asn
NR_052022.2:n.306G>A
NR_052023.2:n.475G>A