Canonical Allele Identifier: CA1602193
Community Standard Title: NM_001199138.2(NLRC4):c.249C>T (p.Asp83=)
Gene: NLRC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32252432G>A , CM000664.2:g.32252432G>A GRCh38
NC_000002.11:g.32477501G>A , CM000664.1:g.32477501G>A GRCh37
NC_000002.10:g.32331005G>A NCBI36
NG_041780.1:g.18312C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001199138.2:c.249C>T MANE Select NP_001186067.1:p.Asp83=
ENST00000402280.6:c.249C>T MANE Select ENSP00000385428.1:p.Asp83=
NM_001199138.1:c.249C>T NP_001186067.1:p.Asp83=
NM_001199139.1:c.249C>T NP_001186068.1:p.Asp83=
NM_001302504.1:c.249C>T NP_001289433.1:p.Asp83=
NM_021209.4:c.249C>T NP_067032.3:p.Asp83=
ENST00000342905.10:c.249C>T ENSP00000339666.6:p.Asp83=
ENST00000360906.9:c.249C>T ENSP00000354159.5:p.Asp83=
ENST00000402280.5:c.249C>T ENSP00000385428.1:p.Asp83=
ENST00000404025.2:c.249C>T ENSP00000385090.2:p.Asp83=
ENST00000404025.3:c.249C>T ENSP00000385090.3:p.Asp83=
ENST00000652197.1:c.249C>T ENSP00000498301.1:p.Asp83=
ENST00000652197.2:c.-76+4343C>T ENSP00000498301.2:n.-76+4343C>T
XM_011533008.1:c.249C>T XP_011531310.1:p.Asp83=
XM_017004619.1:c.249C>T XP_016860108.1:p.Asp83=
XR_001738872.1:n.510C>T