Canonical Allele Identifier: CA362828501
Gene: NHLRC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18122191C>A , CM000668.2:g.18122191C>A GRCh38
NC_000006.11:g.18122422C>A , CM000668.1:g.18122422C>A GRCh37
NC_000006.10:g.18230401C>A NCBI36
NG_016750.1:g.5430G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000340650.6:c.416G>T MANE Select ENSP00000345464.3:p.Gly139Val
ENST00000340650.4:c.416G>T ENSP00000345464.3:p.Gly139Val
NM_198586.2:c.416G>T NP_940988.2:p.Gly139Val
NM_198586.3:c.416G>T MANE Select NP_940988.2:p.Gly139Val