Canonical Allele Identifier: CA362827686
Gene: NHLRC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18122082C>A , CM000668.2:g.18122082C>A GRCh38
NC_000006.11:g.18122313C>A , CM000668.1:g.18122313C>A GRCh37
NC_000006.10:g.18230292C>A NCBI36
NG_016750.1:g.5539G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340650.6:c.525G>T MANE Select ENSP00000345464.3:p.Arg175Ser
ENST00000340650.4:c.525G>T ENSP00000345464.3:p.Arg175Ser
NM_198586.2:c.525G>T NP_940988.2:p.Arg175Ser
NM_198586.3:c.525G>T MANE Select NP_940988.2:p.Arg175Ser