Canonical Allele Identifier: CA8786539

Gene: AANAT

Linked Data

• ClinVar Variation Id: 3133779
• ClinVar RCV Id: RCV004429065
• dbSNP Id: rs749382858
• ExAC: 17:74465393 A / G
• gnomAD v2: 17-74465393-A-G
• gnomAD v3: 17-76469311-A-G
• gnomAD v4: 17-76469311-A-G
• MyVariant Identifiers: chr17:g.74465393A>G (hg19) ; chr17:g.76469311A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469311A>G , CM000679.2:g.76469311A>G	GRCh38
NC_000017.10:g.74465393A>G , CM000679.1:g.74465393A>G	GRCh37
NC_000017.9:g.71976988A>G	NCBI36
NG_015976.1:g.20961A>G
NG_032852.1:g.37117T>C , LRG_532:g.37117T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392492.8:c.302A>G MANE Select	ENSP00000376282.2:p.Lys101Arg
ENST00000250615.7:c.437A>G	ENSP00000250615.2:p.Lys146Arg
ENST00000392492.7:c.302A>G	ENSP00000376282.2:p.Lys101Arg
ENST00000585649.1:c.416A>G	ENSP00000468717.1:p.Lys139Arg
ENST00000587798.1:c.*79A>G	ENSP00000468239.1:n.*79A>G
NM_001088.2:c.302A>G	NP_001079.1:p.Lys101Arg
NM_001166579.1:c.437A>G	NP_001160051.1:p.Lys146Arg
NR_110548.1:n.613A>G
XM_011524415.1:c.302A>G	XP_011522717.1:p.Lys101Arg
XM_011524416.1:c.509A>G	XP_011522718.1:p.Lys170Arg
XM_011524417.1:c.509A>G	XP_011522719.1:p.Lys170Arg
XM_011524418.1:c.509A>G	XP_011522720.1:p.Lys170Arg
XM_011524419.1:c.509A>G	XP_011522721.1:p.Lys170Arg
XM_011524420.1:c.509A>G	XP_011522722.1:p.Lys170Arg
XM_011524421.1:c.509A>G	XP_011522723.1:p.Lys170Arg
XM_011524422.1:c.392A>G	XP_011522724.1:p.Lys131Arg
XM_011524423.1:c.302A>G	XP_011522725.1:p.Lys101Arg
XM_017024259.1:c.416A>G	XP_016879748.1:p.Lys139Arg
NM_001088.3:c.302A>G MANE Select	NP_001079.1:p.Lys101Arg
NR_110548.2:n.558A>G
NM_001166579.2:c.437A>G	NP_001160051.1:p.Lys146Arg