Canonical Allele Identifier: CA234373
Gene: NHLRC1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.18122575G>T
GRCh37 chr6:g.18122806G>T
Revel Score:
ENST00000340650 (MANE Select) 0.261
gnomAD v2:
6:18122806 G / T
gnomAD v3:
6:18122575 G / T
gnomAD v4:
chr6-18122575-G-T
Joint Max Group AF 0.00267072 (NFE)
Genomes Max Group AF 0.00248147 (NFE)
Exomes Max Group AF 0.00266516 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18122575G>T , CM000668.2:g.18122575G>T GRCh38
NC_000006.11:g.18122806G>T , CM000668.1:g.18122806G>T GRCh37
NC_000006.10:g.18230785G>T NCBI36
NG_016750.1:g.5046C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340650.6:c.32C>A MANE Select ENSP00000345464.3:p.Ala11Glu
ENST00000340650.4:c.32C>A ENSP00000345464.3:p.Ala11Glu
NM_198586.2:c.32C>A NP_940988.2:p.Ala11Glu
NM_198586.3:c.32C>A MANE Select NP_940988.2:p.Ala11Glu
Search 100 bp 5'
Search 100 bp 3'