Canonical Allele Identifier: CA362827715
Gene: NHLRC1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000340650.6:c.518A>T MANE Select ENSP00000345464.3:p.Asp173Val
ENST00000340650.4:c.518A>T ENSP00000345464.3:p.Asp173Val
NM_198586.2:c.518A>T NP_940988.2:p.Asp173Val
NM_198586.3:c.518A>T MANE Select NP_940988.2:p.Asp173Val