Canonical Allele Identifier: CA9026115
Gene: ELANE HGNC NCBI

Linked Data

dbSNP Id: rs765630172
gnomAD v2: 19-855927-T-C
gnomAD v4: 19-855927-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.855927T>C , CM000681.2:g.855927T>C GRCh38
NC_000019.9:g.855927T>C , CM000681.1:g.855927T>C GRCh37
NC_000019.8:g.806927T>C NCBI36
NG_007274.1:g.1263T>C , LRG_46:g.1263T>C
NG_009627.1:g.8637T>C , LRG_57:g.8637T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.598-31T>C MANE Select ENSP00000263621.1:n.598-31T>C
ENST00000263621.1:c.598-31T>C ENSP00000263621.1:n.598-31T>C
ENST00000590230.5:c.598-31T>C ENSP00000466090.1:n.598-31T>C
NM_001972.2:c.598-31T>C , LRG_57t1:c.598-31T>C NP_001963.1:n.598-31T>C
XM_011527775.1:c.598-31T>C XP_011526077.1:n.598-31T>C
XM_011527776.1:c.598-31T>C XP_011526078.1:n.598-31T>C
NM_001972.3:c.598-31T>C NP_001963.1:n.598-31T>C
NM_001972.4:c.598-31T>C MANE Select NP_001963.1:n.598-31T>C