Canonical Allele Identifier: CA9025904

Gene: ELANE

Linked Data

• ClinVar Variation Id: 508375
• ClinVar RCV Id: RCV000608667 ; RCV001868040
• dbSNP Id: rs751186012
• ExAC: 19:852364 C / A
• gnomAD v2: 19-852364-C-A
• gnomAD v4: 19-852364-C-A
• MyVariant Identifiers: chr19:g.852364C>A (hg19) ; chr19:g.852364C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.852364C>A , CM000681.2:g.852364C>A	GRCh38
NC_000019.9:g.852364C>A , CM000681.1:g.852364C>A	GRCh37
NC_000019.8:g.803364C>A	NCBI36
NG_009627.1:g.5074C>A , LRG_57:g.5074C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.36C>A MANE Select	ENSP00000263621.1:p.Leu12=
ENST00000263621.1:c.36C>A	ENSP00000263621.1:p.Leu12=
ENST00000590230.5:c.36C>A	ENSP00000466090.1:p.Leu12=
NM_001972.2:c.36C>A , LRG_57t1:c.36C>A	NP_001963.1:p.Leu12=
XM_011527775.1:c.36C>A	XP_011526077.1:p.Leu12=
XM_011527776.1:c.36C>A	XP_011526078.1:p.Leu12=
NM_001972.3:c.36C>A	NP_001963.1:p.Leu12=
NM_001972.4:c.36C>A MANE Select	NP_001963.1:p.Leu12=