Canonical Allele Identifier: CA115636
Gene: NHLRC1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.18121684T>G
GRCh37 chr6:g.18121915T>G
Revel Score:
ENST00000340650 (MANE Select) 0.917
ClinVar Allele:
17631
ClinVar RCV:
RCV000002710
ClinVar Variation:
2592
dbSNP:
137852859
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18121684T>G , CM000668.2:g.18121684T>G GRCh38
NC_000006.11:g.18121915T>G , CM000668.1:g.18121915T>G GRCh37
NC_000006.10:g.18229894T>G NCBI36
NG_016750.1:g.5937A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000340650.6:c.923A>C MANE Select ENSP00000345464.3:p.Asp308Ala
ENST00000340650.4:c.923A>C ENSP00000345464.3:p.Asp308Ala
NM_198586.2:c.923A>C NP_940988.2:p.Asp308Ala
NM_198586.3:c.923A>C MANE Select NP_940988.2:p.Asp308Ala
Search 100 bp 5'
Search 100 bp 3'