Canonical Allele Identifier: CA402919205
Gene: ELANE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.856060C>G , CM000681.2:g.856060C>G GRCh38
NC_000019.9:g.856060C>G , CM000681.1:g.856060C>G GRCh37
NC_000019.8:g.807060C>G NCBI36
NG_007274.1:g.1396C>G , LRG_46:g.1396C>G
NG_009627.1:g.8770C>G , LRG_57:g.8770C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.700C>G MANE Select ENSP00000263621.1:p.Pro234Ala
ENST00000263621.1:c.700C>G ENSP00000263621.1:p.Pro234Ala
ENST00000590230.5:c.700C>G ENSP00000466090.1:p.Pro234Ala
NM_001972.2:c.700C>G , LRG_57t1:c.700C>G NP_001963.1:p.Pro234Ala
XM_011527775.1:c.700C>G XP_011526077.1:p.Pro234Ala
XM_011527776.1:c.700C>G XP_011526078.1:p.Pro234Ala
NM_001972.3:c.700C>G NP_001963.1:p.Pro234Ala
NM_001972.4:c.700C>G MANE Select NP_001963.1:p.Pro234Ala