Canonical Allele Identifier: CA402918774
Gene: ELANE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.855787T>C , CM000681.2:g.855787T>C GRCh38
NC_000019.9:g.855787T>C , CM000681.1:g.855787T>C GRCh37
NC_000019.8:g.806787T>C NCBI36
NG_007274.1:g.1123T>C , LRG_46:g.1123T>C
NG_009627.1:g.8497T>C , LRG_57:g.8497T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.590T>C MANE Select ENSP00000263621.1:p.Val197Ala
ENST00000263621.1:c.590T>C ENSP00000263621.1:p.Val197Ala
ENST00000590230.5:c.590T>C ENSP00000466090.1:p.Val197Ala
NM_001972.2:c.590T>C , LRG_57t1:c.590T>C NP_001963.1:p.Val197Ala
XM_011527775.1:c.590T>C XP_011526077.1:p.Val197Ala
XM_011527776.1:c.590T>C XP_011526078.1:p.Val197Ala
NM_001972.3:c.590T>C NP_001963.1:p.Val197Ala
NM_001972.4:c.590T>C MANE Select NP_001963.1:p.Val197Ala