Canonical Allele Identifier: CA413665305
Gene: NEXMIF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74740964T>C , CM000685.2:g.74740964T>C GRCh38
NC_000023.10:g.73960799T>C , CM000685.1:g.73960799T>C GRCh37
NC_000023.9:g.73877524T>C NCBI36
NG_027726.1:g.189489A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000055682.12:c.3593A>G MANE Select ENSP00000055682.5:p.Lys1198Arg
ENST00000616200.2:c.3593A>G ENSP00000480284.1:p.Lys1198Arg
ENST00000642681.2:c.3593A>G ENSP00000495800.1:p.Lys1198Arg
ENST00000055682.10:c.3593A>G ENSP00000055682.5:p.Lys1198Arg
ENST00000616200.1:c.3593A>G ENSP00000480284.1:p.Lys1198Arg
NM_001008537.2:c.3593A>G NP_001008537.1:p.Lys1198Arg
XM_011530935.1:c.3593A>G XP_011529237.1:p.Lys1198Arg
NM_001008537.3:c.3593A>G MANE Select NP_001008537.1:p.Lys1198Arg