Canonical Allele Identifier: CA402918508

Gene: ELANE

Linked Data

• MyVariant Identifiers: chr19:g.855718T>G (hg19) ; chr19:g.855718T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855718T>G , CM000681.2:g.855718T>G	GRCh38
NC_000019.9:g.855718T>G , CM000681.1:g.855718T>G	GRCh37
NC_000019.8:g.806718T>G	NCBI36
NG_007274.1:g.1054T>G , LRG_46:g.1054T>G
NG_009627.1:g.8428T>G , LRG_57:g.8428T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.521T>G MANE Select	ENSP00000263621.1:p.Val174Gly
ENST00000263621.1:c.521T>G	ENSP00000263621.1:p.Val174Gly
ENST00000590230.5:c.521T>G	ENSP00000466090.1:p.Val174Gly
NM_001972.2:c.521T>G , LRG_57t1:c.521T>G	NP_001963.1:p.Val174Gly
XM_011527775.1:c.521T>G	XP_011526077.1:p.Val174Gly
XM_011527776.1:c.521T>G	XP_011526078.1:p.Val174Gly
NM_001972.3:c.521T>G	NP_001963.1:p.Val174Gly
NM_001972.4:c.521T>G MANE Select	NP_001963.1:p.Val174Gly