Canonical Allele Identifier: CA413665489
Gene: NEXMIF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74741010T>G , CM000685.2:g.74741010T>G GRCh38
NC_000023.10:g.73960845T>G , CM000685.1:g.73960845T>G GRCh37
NC_000023.9:g.73877570T>G NCBI36
NG_027726.1:g.189443A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000055682.12:c.3547A>C MANE Select ENSP00000055682.5:p.Lys1183Gln
ENST00000616200.2:c.3547A>C ENSP00000480284.1:p.Lys1183Gln
ENST00000642681.2:c.3547A>C ENSP00000495800.1:p.Lys1183Gln
ENST00000055682.10:c.3547A>C ENSP00000055682.5:p.Lys1183Gln
ENST00000616200.1:c.3547A>C ENSP00000480284.1:p.Lys1183Gln
NM_001008537.2:c.3547A>C NP_001008537.1:p.Lys1183Gln
XM_011530935.1:c.3547A>C XP_011529237.1:p.Lys1183Gln
NM_001008537.3:c.3547A>C MANE Select NP_001008537.1:p.Lys1183Gln