Canonical Allele Identifier: CA448958198
Gene: NHLRC1 HGNC NCBI

Linked Data

gnomAD v4: 6-18122193-C-T
MyVariant Identifiers: chr6:g.18122424C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18122193C>T , CM000668.2:g.18122193C>T GRCh38
NC_000006.11:g.18122424C>T , CM000668.1:g.18122424C>T GRCh37
NC_000006.10:g.18230403C>T NCBI36
NG_016750.1:g.5428G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340650.6:c.414G>A MANE Select ENSP00000345464.3:p.Thr138=
ENST00000340650.4:c.414G>A ENSP00000345464.3:p.Thr138=
NM_198586.2:c.414G>A NP_940988.2:p.Thr138=
NM_198586.3:c.414G>A MANE Select NP_940988.2:p.Thr138=