Canonical Allele Identifier: CA362828513
Gene: NHLRC1 HGNC NCBI

Linked Data

gnomAD v4: 6-18122194-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18122194G>A , CM000668.2:g.18122194G>A GRCh38
NC_000006.11:g.18122425G>A , CM000668.1:g.18122425G>A GRCh37
NC_000006.10:g.18230404G>A NCBI36
NG_016750.1:g.5427C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000340650.6:c.413C>T MANE Select ENSP00000345464.3:p.Thr138Met
ENST00000340650.4:c.413C>T ENSP00000345464.3:p.Thr138Met
NM_198586.2:c.413C>T NP_940988.2:p.Thr138Met
NM_198586.3:c.413C>T MANE Select NP_940988.2:p.Thr138Met