Canonical Allele Identifier: CA413665059
Gene: NEXMIF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74740904T>G , CM000685.2:g.74740904T>G GRCh38
NC_000023.10:g.73960739T>G , CM000685.1:g.73960739T>G GRCh37
NC_000023.9:g.73877464T>G NCBI36
NG_027726.1:g.189549A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000055682.12:c.3653A>C MANE Select ENSP00000055682.5:p.Gln1218Pro
ENST00000616200.2:c.3653A>C ENSP00000480284.1:p.Gln1218Pro
ENST00000642681.2:c.3653A>C ENSP00000495800.1:p.Gln1218Pro
ENST00000055682.10:c.3653A>C ENSP00000055682.5:p.Gln1218Pro
ENST00000616200.1:c.3653A>C ENSP00000480284.1:p.Gln1218Pro
NM_001008537.2:c.3653A>C NP_001008537.1:p.Gln1218Pro
XM_011530935.1:c.3653A>C XP_011529237.1:p.Gln1218Pro
NM_001008537.3:c.3653A>C MANE Select NP_001008537.1:p.Gln1218Pro