Canonical Allele Identifier: CA306212139

Gene: ELL

Linked Data

• dbSNP Id: rs1007755041
• gnomAD v2: 19-18571209-C-G
• MyVariant Identifiers: chr19:g.18571209C>G (hg19) ; chr19:g.18460399C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18460399C>G , CM000681.2:g.18460399C>G	GRCh38
NC_000019.9:g.18571209C>G , CM000681.1:g.18571209C>G	GRCh37
NC_000019.8:g.18432209C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262809.9:c.744+1179G>C MANE Select	ENSP00000262809.3:n.744+1179G>C
ENST00000262809.8:c.744+1179G>C	ENSP00000262809.3:n.744+1179G>C
ENST00000594635.6:c.*579+1179G>C	ENSP00000475681.2:n.*579+1179G>C
ENST00000596124.3:c.345+1179G>C	ENSP00000475648.2:n.345+1179G>C
NM_006532.3:c.744+1179G>C	NP_006523.1:n.744+1179G>C
XM_011528330.1:c.744+1179G>C	XP_011526632.1:n.744+1179G>C
XR_936207.1:n.818+1179G>C
XM_011528330.3:c.744+1179G>C	XP_011526632.2:n.744+1179G>C
XM_017027335.1:c.345+1179G>C	XP_016882824.1:n.345+1179G>C
XM_017027336.1:c.-10+606G>C	XP_016882825.1:n.-10+606G>C
XM_017027337.2:c.17+1179G>C	XP_016882826.1:n.17+1179G>C
XR_001753769.2:n.749+1179G>C
XR_936207.3:n.749+1179G>C
NM_006532.4:c.744+1179G>C MANE Select	NP_006523.1:n.744+1179G>C