Canonical Allele Identifier: CA362827664
Gene: NHLRC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.18122308G>A (hg19) chr6:g.18122077G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18122077G>A , CM000668.2:g.18122077G>A GRCh38
NC_000006.11:g.18122308G>A , CM000668.1:g.18122308G>A GRCh37
NC_000006.10:g.18230287G>A NCBI36
NG_016750.1:g.5544C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000340650.6:c.530C>T MANE Select ENSP00000345464.3:p.Pro177Leu
ENST00000340650.4:c.530C>T ENSP00000345464.3:p.Pro177Leu
NM_198586.2:c.530C>T NP_940988.2:p.Pro177Leu
NM_198586.3:c.530C>T MANE Select NP_940988.2:p.Pro177Leu
Search 100 bp 5'
Search 100 bp 3'