Canonical Allele Identifier: CA281050
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 16743
ClinVar RCV Id: RCV000018227 RCV000220001
dbSNP Id: rs137854448
gnomAD v4: 19-855613-C-T
MyVariant Identifiers: chr19:g.855613C>T (hg19) chr19:g.855613C>T (hg38)
PubMed: PMID:11001877 PMID:18028488
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.855613C>T , CM000681.2:g.855613C>T GRCh38
NC_000019.9:g.855613C>T , CM000681.1:g.855613C>T GRCh37
NC_000019.8:g.806613C>T NCBI36
NG_007274.1:g.949C>T , LRG_46:g.949C>T
NG_009627.1:g.8323C>T , LRG_57:g.8323C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263621.2:c.416C>T MANE Select ENSP00000263621.1:p.Pro139Leu
ENST00000263621.1:c.416C>T ENSP00000263621.1:p.Pro139Leu
ENST00000590230.5:c.416C>T ENSP00000466090.1:p.Pro139Leu
NM_001972.2:c.416C>T , LRG_57t1:c.416C>T NP_001963.1:p.Pro139Leu
XM_011527775.1:c.416C>T XP_011526077.1:p.Pro139Leu
XM_011527776.1:c.416C>T XP_011526078.1:p.Pro139Leu
NM_001972.3:c.416C>T NP_001963.1:p.Pro139Leu
NM_001972.4:c.416C>T MANE Select NP_001963.1:p.Pro139Leu
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Search 100 bp 3'