Canonical Allele Identifier: CA504686704

Gene: ELANE

Linked Data

• gnomAD v4: 19-856035-A-C
• MyVariant Identifiers: chr19:g.856035A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.856035A>C , CM000681.2:g.856035A>C	GRCh38
NC_000019.9:g.856035A>C , CM000681.1:g.856035A>C	GRCh37
NC_000019.8:g.807035A>C	NCBI36
NG_007274.1:g.1371A>C , LRG_46:g.1371A>C
NG_009627.1:g.8745A>C , LRG_57:g.8745A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.675A>C MANE Select	ENSP00000263621.1:p.Ser225=
ENST00000263621.1:c.675A>C	ENSP00000263621.1:p.Ser225=
ENST00000590230.5:c.675A>C	ENSP00000466090.1:p.Ser225=
NM_001972.2:c.675A>C , LRG_57t1:c.675A>C	NP_001963.1:p.Ser225=
XM_011527775.1:c.675A>C	XP_011526077.1:p.Ser225=
XM_011527776.1:c.675A>C	XP_011526078.1:p.Ser225=
NM_001972.3:c.675A>C	NP_001963.1:p.Ser225=
NM_001972.4:c.675A>C MANE Select	NP_001963.1:p.Ser225=