Canonical Allele Identifier: CA306212133

Gene: ELL

Linked Data

• dbSNP Id: rs75445489
• gnomAD v2: 19-18571150-G-A
• gnomAD v3: 19-18460340-G-A
• gnomAD v4: 19-18460340-G-A
• MyVariant Identifiers: chr19:g.18571150G>A (hg19) ; chr19:g.18460340G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18460340G>A , CM000681.2:g.18460340G>A	GRCh38
NC_000019.9:g.18571150G>A , CM000681.1:g.18571150G>A	GRCh37
NC_000019.8:g.18432150G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000262809.9:c.744+1238C>T MANE Select	ENSP00000262809.3:n.744+1238C>T
ENST00000262809.8:c.744+1238C>T	ENSP00000262809.3:n.744+1238C>T
ENST00000594635.6:c.*579+1238C>T	ENSP00000475681.2:n.*579+1238C>T
ENST00000596124.3:c.345+1238C>T	ENSP00000475648.2:n.345+1238C>T
NM_006532.3:c.744+1238C>T	NP_006523.1:n.744+1238C>T
XM_011528330.1:c.744+1238C>T	XP_011526632.1:n.744+1238C>T
XR_936207.1:n.818+1238C>T
XM_011528330.3:c.744+1238C>T	XP_011526632.2:n.744+1238C>T
XM_017027335.1:c.345+1238C>T	XP_016882824.1:n.345+1238C>T
XM_017027336.1:c.-10+665C>T	XP_016882825.1:n.-10+665C>T
XM_017027337.2:c.17+1238C>T	XP_016882826.1:n.17+1238C>T
XR_001753769.2:n.749+1238C>T
XR_936207.3:n.749+1238C>T
NM_006532.4:c.744+1238C>T MANE Select	NP_006523.1:n.744+1238C>T