Canonical Allele Identifier: CA230485
Gene: NLRC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 103372
ClinVar RCV Id: RCV000089632
dbSNP Id: rs199475945
gnomAD v4: 16-3548189-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3548189G>A , CM000678.2:g.3548189G>A GRCh38
NC_000016.9:g.3598189G>A , CM000678.1:g.3598189G>A GRCh37
NC_000016.8:g.3538190G>A NCBI36
NG_033123.1:g.34203C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000359128.10:c.2717C>T MANE Select ENSP00000352039.6:p.Ala906Val
ENST00000324659.12:c.2858C>T ENSP00000323897.9:p.Ala953Val
ENST00000359128.9:c.2717C>T ENSP00000352039.6:p.Ala906Val
ENST00000448023.6:c.2717C>T ENSP00000414415.3:p.Ala906Val
ENST00000615877.4:c.*567C>T ENSP00000482989.1:n.*567C>T
ENST00000618137.1:c.534C>T
NM_178844.3:c.2717C>T NP_849172.2:p.Ala906Val
NR_075083.2:n.3338C>T
XM_011522416.1:c.2717C>T XP_011520718.1:p.Ala906Val
XM_011522417.1:c.2717C>T XP_011520719.1:p.Ala906Val
XM_011522418.1:c.2717C>T XP_011520720.1:p.Ala906Val
XM_011522419.1:c.2717C>T XP_011520721.1:p.Ala906Val
XM_011522420.1:c.2717C>T XP_011520722.1:p.Ala906Val
XM_011522421.1:c.2717C>T XP_011520723.1:p.Ala906Val
XM_011522422.1:c.2717C>T XP_011520724.1:p.Ala906Val
XM_011522423.1:c.2717C>T XP_011520725.1:p.Ala906Val
XR_243342.2:n.501+2191G>A
XR_933023.1:n.501+2191G>A
XR_933024.1:n.466+2191G>A
XR_933025.1:n.411+2191G>A
XM_017023027.2:c.2744C>T XP_016878516.1:p.Ala915Val
XM_017023028.2:c.2744C>T XP_016878517.1:p.Ala915Val
XM_017023029.2:c.2744C>T XP_016878518.1:p.Ala915Val
XM_017023030.2:c.2744C>T XP_016878519.1:p.Ala915Val
XM_017023031.2:c.2744C>T XP_016878520.1:p.Ala915Val
XM_017023033.2:c.2744C>T XP_016878522.1:p.Ala915Val
XM_017023034.2:c.2744C>T XP_016878523.1:p.Ala915Val
XM_017023035.2:c.2744C>T XP_016878524.1:p.Ala915Val
XM_017023036.2:c.2744C>T XP_016878525.1:p.Ala915Val
XM_017023037.2:c.2639C>T XP_016878526.1:p.Ala880Val
XM_017023038.2:c.2612C>T XP_016878527.1:p.Ala871Val
XM_017023039.1:c.2744C>T XP_016878528.1:p.Ala915Val
XR_001752059.2:n.2497+2191G>A
XR_001752060.2:n.2497+2191G>A
NM_178844.4:c.2717C>T MANE Select NP_849172.2:p.Ala906Val
NR_075083.3:n.3337C>T