Canonical Allele Identifier: CA8786612

Gene: AANAT

Linked Data

• ClinVar Variation Id: 2508938
• ClinVar RCV Id: RCV004281814
• dbSNP Id: rs143874240
• ExAC: 17:74465909 G / A
• gnomAD v2: 17-74465909-G-A
• gnomAD v3: 17-76469827-G-A
• gnomAD v4: 17-76469827-G-A
• MyVariant Identifiers: chr17:g.74465909G>A (hg19) ; chr17:g.76469827G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469827G>A , CM000679.2:g.76469827G>A	GRCh38
NC_000017.10:g.74465909G>A , CM000679.1:g.74465909G>A	GRCh37
NC_000017.9:g.71977504G>A	NCBI36
NG_015976.1:g.21477G>A
NG_032852.1:g.36601C>T , LRG_532:g.36601C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392492.8:c.481G>A MANE Select	ENSP00000376282.2:p.Glu161Lys
ENST00000250615.7:c.616G>A	ENSP00000250615.2:p.Glu206Lys
ENST00000392492.7:c.481G>A	ENSP00000376282.2:p.Glu161Lys
ENST00000587798.1:c.*258G>A	ENSP00000468239.1:n.*258G>A
NM_001088.2:c.481G>A	NP_001079.1:p.Glu161Lys
NM_001166579.1:c.616G>A	NP_001160051.1:p.Glu206Lys
NR_110548.1:n.792G>A
XM_011524415.1:c.481G>A	XP_011522717.1:p.Glu161Lys
XM_011524416.1:c.688G>A	XP_011522718.1:p.Glu230Lys
XM_011524417.1:c.688G>A	XP_011522719.1:p.Glu230Lys
XM_011524418.1:c.688G>A	XP_011522720.1:p.Glu230Lys
XM_011524419.1:c.688G>A	XP_011522721.1:p.Glu230Lys
XM_011524420.1:c.688G>A	XP_011522722.1:p.Glu230Lys
XM_011524421.1:c.688G>A	XP_011522723.1:p.Glu230Lys
XM_011524422.1:c.571G>A	XP_011522724.1:p.Glu191Lys
XM_011524423.1:c.481G>A	XP_011522725.1:p.Glu161Lys
XM_017024259.1:c.595G>A	XP_016879748.1:p.Glu199Lys
NM_001088.3:c.481G>A MANE Select	NP_001079.1:p.Glu161Lys
NR_110548.2:n.737G>A
NM_001166579.2:c.616G>A	NP_001160051.1:p.Glu206Lys