Canonical Allele Identifier: CA362827693
Gene: NHLRC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18122084T>A , CM000668.2:g.18122084T>A GRCh38
NC_000006.11:g.18122315T>A , CM000668.1:g.18122315T>A GRCh37
NC_000006.10:g.18230294T>A NCBI36
NG_016750.1:g.5537A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000340650.6:c.523A>T MANE Select ENSP00000345464.3:p.Arg175Trp
ENST00000340650.4:c.523A>T ENSP00000345464.3:p.Arg175Trp
NM_198586.2:c.523A>T NP_940988.2:p.Arg175Trp
NM_198586.3:c.523A>T MANE Select NP_940988.2:p.Arg175Trp