Canonical Allele Identifier: CA362827729
Gene: NHLRC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18122091T>G , CM000668.2:g.18122091T>G GRCh38
NC_000006.11:g.18122322T>G , CM000668.1:g.18122322T>G GRCh37
NC_000006.10:g.18230301T>G NCBI36
NG_016750.1:g.5530A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000340650.6:c.516A>C MANE Select ENSP00000345464.3:p.Gln172His
ENST00000340650.4:c.516A>C ENSP00000345464.3:p.Gln172His
NM_198586.2:c.516A>C NP_940988.2:p.Gln172His
NM_198586.3:c.516A>C MANE Select NP_940988.2:p.Gln172His