Canonical Allele Identifier: CA2317361464
Gene: ELANE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.855770G= , CM000681.2:g.855770G= GRCh38
NC_000019.9:g.855770G= , CM000681.1:g.855770G= GRCh37
NC_000019.8:g.806770G= NCBI36
NG_007274.1:g.1106G= , LRG_46:g.1106G=
NG_009627.1:g.8480G= , LRG_57:g.8480G=

Transcript Alleles

HGVS Amino-acid Change
NM_001972.4:c.573G= MANE Select NP_001963.1:p.Arg191=
ENST00000263621.2:c.573G= MANE Select ENSP00000263621.1:p.Arg191=
NM_001972.2:c.573G= , LRG_57t1:c.573G= NP_001963.1:p.Arg191=
NM_001972.3:c.573G= NP_001963.1:p.Arg191=
ENST00000263621.1:c.573G= ENSP00000263621.1:p.Arg191=
ENST00000590230.5:c.573G= ENSP00000466090.1:p.Arg191=
XM_011527775.1:c.573G= XP_011526077.1:p.Arg191=
XM_011527776.1:c.573G= XP_011526078.1:p.Arg191=