Canonical Allele Identifier: CA413665175
Gene: NEXMIF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74740932C>T , CM000685.2:g.74740932C>T GRCh38
NC_000023.10:g.73960767C>T , CM000685.1:g.73960767C>T GRCh37
NC_000023.9:g.73877492C>T NCBI36
NG_027726.1:g.189521G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000055682.12:c.3625G>A MANE Select ENSP00000055682.5:p.Glu1209Lys
ENST00000616200.2:c.3625G>A ENSP00000480284.1:p.Glu1209Lys
ENST00000642681.2:c.3625G>A ENSP00000495800.1:p.Glu1209Lys
ENST00000055682.10:c.3625G>A ENSP00000055682.5:p.Glu1209Lys
ENST00000616200.1:c.3625G>A ENSP00000480284.1:p.Glu1209Lys
NM_001008537.2:c.3625G>A NP_001008537.1:p.Glu1209Lys
XM_011530935.1:c.3625G>A XP_011529237.1:p.Glu1209Lys
NM_001008537.3:c.3625G>A MANE Select NP_001008537.1:p.Glu1209Lys