Canonical Allele Identifier: CA362827700
Gene: NHLRC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18122086A>C , CM000668.2:g.18122086A>C GRCh38
NC_000006.11:g.18122317A>C , CM000668.1:g.18122317A>C GRCh37
NC_000006.10:g.18230296A>C NCBI36
NG_016750.1:g.5535T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340650.6:c.521T>G MANE Select ENSP00000345464.3:p.Ile174Ser
ENST00000340650.4:c.521T>G ENSP00000345464.3:p.Ile174Ser
NM_198586.2:c.521T>G NP_940988.2:p.Ile174Ser
NM_198586.3:c.521T>G MANE Select NP_940988.2:p.Ile174Ser