Canonical Allele Identifier: CA9026175

Gene: ELANE

Linked Data

• dbSNP Id: rs765186803
• ExAC: 19:856181 C / G
• gnomAD v2: 19-856181-C-G
• gnomAD v4: 19-856181-C-G
• MyVariant Identifiers: chr19:g.856181C>G (hg19) ; chr19:g.856181C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.856181C>G , CM000681.2:g.856181C>G	GRCh38
NC_000019.9:g.856181C>G , CM000681.1:g.856181C>G	GRCh37
NC_000019.8:g.807181C>G	NCBI36
NG_007274.1:g.1517C>G , LRG_46:g.1517C>G
NG_009627.1:g.8891C>G , LRG_57:g.8891C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.*17C>G MANE Select	ENSP00000263621.1:n.*17C>G
ENST00000263621.1:c.*17C>G	ENSP00000263621.1:n.*17C>G
ENST00000590230.5:c.*17C>G	ENSP00000466090.1:n.*17C>G
NM_001972.2:c.*17C>G , LRG_57t1:c.*17C>G	NP_001963.1:n.*17C>G
XM_011527775.1:c.*17C>G	XP_011526077.1:n.*17C>G
XM_011527776.1:c.*17C>G	XP_011526078.1:n.*17C>G
NM_001972.3:c.*17C>G	NP_001963.1:n.*17C>G
NM_001972.4:c.*17C>G MANE Select	NP_001963.1:n.*17C>G