Canonical Allele Identifier: CA306203248

Gene: ELL

Linked Data

• dbSNP Id: rs976552211
• gnomAD v2: 19-18618893-T-C
• gnomAD v3: 19-18508083-T-C
• gnomAD v4: 19-18508083-T-C
• MyVariant Identifiers: chr19:g.18618893T>C (hg19) ; chr19:g.18508083T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18508083T>C , CM000681.2:g.18508083T>C	GRCh38
NC_000019.9:g.18618893T>C , CM000681.1:g.18618893T>C	GRCh37
NC_000019.8:g.18479893T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262809.9:c.135+13838A>G MANE Select	ENSP00000262809.3:n.135+13838A>G
ENST00000262809.8:c.135+13838A>G	ENSP00000262809.3:n.135+13838A>G
ENST00000594635.6:c.135+13838A>G	ENSP00000475681.2:n.135+13838A>G
ENST00000596915.1:n.147+13838A>G
NM_006532.3:c.135+13838A>G	NP_006523.1:n.135+13838A>G
XM_011528330.1:c.135+13838A>G	XP_011526632.1:n.135+13838A>G
XR_936207.1:n.209+13838A>G
XM_011528330.3:c.135+13838A>G	XP_011526632.2:n.135+13838A>G
XM_017027335.1:c.-385+13838A>G	XP_016882824.1:n.-385+13838A>G
XR_001753769.2:n.140+13838A>G
XR_936207.3:n.140+13838A>G
NM_006532.4:c.135+13838A>G MANE Select	NP_006523.1:n.135+13838A>G