Canonical Allele Identifier: CA9147333

Gene: EVI5L

Linked Data

• ClinVar Variation Id: 3090858
• ClinVar RCV Id: RCV004383261
• dbSNP Id: rs774677590
• ExAC: 19:7928544 G / A
• gnomAD v2: 19-7928544-G-A
• gnomAD v3: 19-7863658-G-A
• gnomAD v4: 19-7863658-G-A
• MyVariant Identifiers: chr19:g.7928544G>A (hg19) ; chr19:g.7863658G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7863658G>A , CM000681.2:g.7863658G>A	GRCh38
NC_000019.9:g.7928544G>A , CM000681.1:g.7928544G>A	GRCh37
NC_000019.8:g.7834544G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000538904.7:c.2374G>A MANE Select	ENSP00000445905.1:p.Ala792Thr
ENST00000270530.8:c.2341G>A	ENSP00000270530.3:p.Ala781Thr
ENST00000538904.6:c.2374G>A	ENSP00000445905.1:p.Ala792Thr
NM_001159944.2:c.2374G>A	NP_001153416.1:p.Ala792Thr
NM_145245.4:c.2341G>A	NP_660288.1:p.Ala781Thr
XM_005272458.3:c.2374G>A	XP_005272515.1:p.Ala792Thr
XM_005272458.5:c.2374G>A	XP_005272515.1:p.Ala792Thr
XM_017026239.1:c.2374G>A	XP_016881728.1:p.Ala792Thr
NM_001159944.3:c.2374G>A MANE Select	NP_001153416.1:p.Ala792Thr
NM_145245.5:c.2341G>A	NP_660288.1:p.Ala781Thr