Canonical Allele Identifier: CA657480006
Gene: ELANE HGNC NCBI

Linked Data

COSMIC: COSN7452044
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.855531T>C , CM000681.2:g.855531T>C GRCh38
NC_000019.9:g.855531T>C , CM000681.1:g.855531T>C GRCh37
NC_000019.8:g.806531T>C NCBI36
NG_007274.1:g.867T>C , LRG_46:g.867T>C
NG_009627.1:g.8241T>C , LRG_57:g.8241T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000263621.2:c.367-33T>C MANE Select ENSP00000263621.1:n.367-33T>C
ENST00000263621.1:c.367-33T>C ENSP00000263621.1:n.367-33T>C
ENST00000590230.5:c.367-33T>C ENSP00000466090.1:n.367-33T>C
NM_001972.2:c.367-33T>C , LRG_57t1:c.367-33T>C NP_001963.1:n.367-33T>C
XM_011527775.1:c.367-33T>C XP_011526077.1:n.367-33T>C
XM_011527776.1:c.367-33T>C XP_011526078.1:n.367-33T>C
NM_001972.3:c.367-33T>C NP_001963.1:n.367-33T>C
NM_001972.4:c.367-33T>C MANE Select NP_001963.1:n.367-33T>C
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