Canonical Allele Identifier: CA362827718
Gene: NHLRC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18122089T>G , CM000668.2:g.18122089T>G GRCh38
NC_000006.11:g.18122320T>G , CM000668.1:g.18122320T>G GRCh37
NC_000006.10:g.18230299T>G NCBI36
NG_016750.1:g.5532A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000340650.6:c.518A>C MANE Select ENSP00000345464.3:p.Asp173Ala
ENST00000340650.4:c.518A>C ENSP00000345464.3:p.Asp173Ala
NM_198586.2:c.518A>C NP_940988.2:p.Asp173Ala
NM_198586.3:c.518A>C MANE Select NP_940988.2:p.Asp173Ala