Canonical Allele Identifier: CA362827711
Gene: NHLRC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18122088G>T , CM000668.2:g.18122088G>T GRCh38
NC_000006.11:g.18122319G>T , CM000668.1:g.18122319G>T GRCh37
NC_000006.10:g.18230298G>T NCBI36
NG_016750.1:g.5533C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340650.6:c.519C>A MANE Select ENSP00000345464.3:p.Asp173Glu
ENST00000340650.4:c.519C>A ENSP00000345464.3:p.Asp173Glu
NM_198586.2:c.519C>A NP_940988.2:p.Asp173Glu
NM_198586.3:c.519C>A MANE Select NP_940988.2:p.Asp173Glu