Canonical Allele Identifier: CA402914537
Gene: ELANE HGNC NCBI

Linked Data

gnomAD v4: 19-852942-T-C
MyVariant Identifiers: chr19:g.852942T>C (hg19) chr19:g.852942T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.852942T>C , CM000681.2:g.852942T>C GRCh38
NC_000019.9:g.852942T>C , CM000681.1:g.852942T>C GRCh37
NC_000019.8:g.803942T>C NCBI36
NG_009627.1:g.5652T>C , LRG_57:g.5652T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.134T>C MANE Select ENSP00000263621.1:p.Val45Ala
ENST00000263621.1:c.134T>C ENSP00000263621.1:p.Val45Ala
ENST00000590230.5:c.134T>C ENSP00000466090.1:p.Val45Ala
NM_001972.2:c.134T>C , LRG_57t1:c.134T>C NP_001963.1:p.Val45Ala
XM_011527775.1:c.134T>C XP_011526077.1:p.Val45Ala
XM_011527776.1:c.134T>C XP_011526078.1:p.Val45Ala
NM_001972.3:c.134T>C NP_001963.1:p.Val45Ala
NM_001972.4:c.134T>C MANE Select NP_001963.1:p.Val45Ala
Search 100 bp 5'
Search 100 bp 3'