Canonical Allele Identifier: CA413665067
Gene: NEXMIF HGNC NCBI

Linked Data

dbSNP Id: rs143271748

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74740907C>A , CM000685.2:g.74740907C>A GRCh38
NC_000023.10:g.73960742C>A , CM000685.1:g.73960742C>A GRCh37
NC_000023.9:g.73877467C>A NCBI36
NG_027726.1:g.189546G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000055682.12:c.3650G>T MANE Select ENSP00000055682.5:p.Arg1217Leu
ENST00000616200.2:c.3650G>T ENSP00000480284.1:p.Arg1217Leu
ENST00000642681.2:c.3650G>T ENSP00000495800.1:p.Arg1217Leu
ENST00000055682.10:c.3650G>T ENSP00000055682.5:p.Arg1217Leu
ENST00000616200.1:c.3650G>T ENSP00000480284.1:p.Arg1217Leu
NM_001008537.2:c.3650G>T NP_001008537.1:p.Arg1217Leu
XM_011530935.1:c.3650G>T XP_011529237.1:p.Arg1217Leu
NM_001008537.3:c.3650G>T MANE Select NP_001008537.1:p.Arg1217Leu