Canonical Allele Identifier: CA362827670
Gene: NHLRC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18122078G>C , CM000668.2:g.18122078G>C GRCh38
NC_000006.11:g.18122309G>C , CM000668.1:g.18122309G>C GRCh37
NC_000006.10:g.18230288G>C NCBI36
NG_016750.1:g.5543C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340650.6:c.529C>G MANE Select ENSP00000345464.3:p.Pro177Ala
ENST00000340650.4:c.529C>G ENSP00000345464.3:p.Pro177Ala
NM_198586.2:c.529C>G NP_940988.2:p.Pro177Ala
NM_198586.3:c.529C>G MANE Select NP_940988.2:p.Pro177Ala