Canonical Allele Identifier: CA2317361747
Gene: ELANE HGNC NCBI

Linked Data

dbSNP Id: rs2035680717

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.856248G>C , CM000681.2:g.856248G>C GRCh38
NC_000019.9:g.856248G>C , CM000681.1:g.856248G>C GRCh37
NC_000019.8:g.807248G>C NCBI36
NG_007274.1:g.1584G>C , LRG_46:g.1584G>C
NG_009627.1:g.8958G>C , LRG_57:g.8958G>C

Transcript Alleles

HGVS Amino-acid Change
XM_011527775.1:c.*84G>C XP_011526077.1:n.*84G>C
XM_011527776.1:c.*84G>C XP_011526078.1:n.*84G>C