Canonical Allele Identifier: CA2580607914

Gene: ELL

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18460331A>T , CM000681.2:g.18460331A>T	GRCh38
NC_000019.9:g.18571141A>T , CM000681.1:g.18571141A>T	GRCh37
NC_000019.8:g.18432141A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262809.9:c.744+1247T>A MANE Select	ENSP00000262809.3:n.744+1247T>A
ENST00000262809.8:c.744+1247T>A	ENSP00000262809.3:n.744+1247T>A
ENST00000594635.6:c.*579+1247T>A	ENSP00000475681.2:n.*579+1247T>A
ENST00000596124.3:c.345+1247T>A	ENSP00000475648.2:n.345+1247T>A
NM_006532.3:c.744+1247T>A	NP_006523.1:n.744+1247T>A
XM_011528330.1:c.744+1247T>A	XP_011526632.1:n.744+1247T>A
XR_936207.1:n.818+1247T>A
XM_011528330.3:c.744+1247T>A	XP_011526632.2:n.744+1247T>A
XM_017027335.1:c.345+1247T>A	XP_016882824.1:n.345+1247T>A
XM_017027336.1:c.-10+674T>A	XP_016882825.1:n.-10+674T>A
XM_017027337.2:c.17+1247T>A	XP_016882826.1:n.17+1247T>A
XR_001753769.2:n.749+1247T>A
XR_936207.3:n.749+1247T>A
NM_006532.4:c.744+1247T>A MANE Select	NP_006523.1:n.744+1247T>A