Canonical Allele Identifier: CA448958149
Gene: NHLRC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2011650
ClinVar RCV Id: RCV002838568
gnomAD v4: 6-18122088-G-A
MyVariant Identifiers: chr6:g.18122319G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18122088G>A , CM000668.2:g.18122088G>A GRCh38
NC_000006.11:g.18122319G>A , CM000668.1:g.18122319G>A GRCh37
NC_000006.10:g.18230298G>A NCBI36
NG_016750.1:g.5533C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000340650.6:c.519C>T MANE Select ENSP00000345464.3:p.Asp173=
ENST00000340650.4:c.519C>T ENSP00000345464.3:p.Asp173=
NM_198586.2:c.519C>T NP_940988.2:p.Asp173=
NM_198586.3:c.519C>T MANE Select NP_940988.2:p.Asp173=
Search 100 bp 5'
Search 100 bp 3'