Canonical Allele Identifier: CA362827735
Gene: NHLRC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 904085
ClinVar RCV Id: RCV001151779
dbSNP Id: rs1783745635
MyVariant Identifiers: chr6:g.18122323T>C (hg19) chr6:g.18122092T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18122092T>C , CM000668.2:g.18122092T>C GRCh38
NC_000006.11:g.18122323T>C , CM000668.1:g.18122323T>C GRCh37
NC_000006.10:g.18230302T>C NCBI36
NG_016750.1:g.5529A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340650.6:c.515A>G MANE Select ENSP00000345464.3:p.Gln172Arg
ENST00000340650.4:c.515A>G ENSP00000345464.3:p.Gln172Arg
NM_198586.2:c.515A>G NP_940988.2:p.Gln172Arg
NM_198586.3:c.515A>G MANE Select NP_940988.2:p.Gln172Arg
Search 100 bp 5'
Search 100 bp 3'