Canonical Allele Identifier: CA362827705
Gene: NHLRC1 HGNC NCBI

Linked Data

gnomAD v4: 6-18122087-T-C
MyVariant Identifiers: chr6:g.18122318T>C (hg19) chr6:g.18122087T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18122087T>C , CM000668.2:g.18122087T>C GRCh38
NC_000006.11:g.18122318T>C , CM000668.1:g.18122318T>C GRCh37
NC_000006.10:g.18230297T>C NCBI36
NG_016750.1:g.5534A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340650.6:c.520A>G MANE Select ENSP00000345464.3:p.Ile174Val
ENST00000340650.4:c.520A>G ENSP00000345464.3:p.Ile174Val
NM_198586.2:c.520A>G NP_940988.2:p.Ile174Val
NM_198586.3:c.520A>G MANE Select NP_940988.2:p.Ile174Val
Search 100 bp 5'
Search 100 bp 3'