Canonical Allele Identifier: CA8786585

Gene: AANAT

Linked Data

• ClinVar Variation Id: 2411738
• ClinVar RCV Id: RCV004245801
• dbSNP Id: rs747872748
• ExAC: 17:74465820 G / A
• gnomAD v2: 17-74465820-G-A
• gnomAD v3: 17-76469738-G-A
• gnomAD v4: 17-76469738-G-A
• MyVariant Identifiers: chr17:g.74465820G>A (hg19) ; chr17:g.76469738G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469738G>A , CM000679.2:g.76469738G>A	GRCh38
NC_000017.10:g.74465820G>A , CM000679.1:g.74465820G>A	GRCh37
NC_000017.9:g.71977415G>A	NCBI36
NG_015976.1:g.21388G>A
NG_032852.1:g.36690C>T , LRG_532:g.36690C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392492.8:c.392G>A MANE Select	ENSP00000376282.2:p.Arg131Gln
ENST00000250615.7:c.527G>A	ENSP00000250615.2:p.Arg176Gln
ENST00000392492.7:c.392G>A	ENSP00000376282.2:p.Arg131Gln
ENST00000587798.1:c.*169G>A	ENSP00000468239.1:n.*169G>A
NM_001088.2:c.392G>A	NP_001079.1:p.Arg131Gln
NM_001166579.1:c.527G>A	NP_001160051.1:p.Arg176Gln
NR_110548.1:n.703G>A
XM_011524415.1:c.392G>A	XP_011522717.1:p.Arg131Gln
XM_011524416.1:c.599G>A	XP_011522718.1:p.Arg200Gln
XM_011524417.1:c.599G>A	XP_011522719.1:p.Arg200Gln
XM_011524418.1:c.599G>A	XP_011522720.1:p.Arg200Gln
XM_011524419.1:c.599G>A	XP_011522721.1:p.Arg200Gln
XM_011524420.1:c.599G>A	XP_011522722.1:p.Arg200Gln
XM_011524421.1:c.599G>A	XP_011522723.1:p.Arg200Gln
XM_011524422.1:c.482G>A	XP_011522724.1:p.Arg161Gln
XM_011524423.1:c.392G>A	XP_011522725.1:p.Arg131Gln
XM_017024259.1:c.506G>A	XP_016879748.1:p.Arg169Gln
NM_001088.3:c.392G>A MANE Select	NP_001079.1:p.Arg131Gln
NR_110548.2:n.648G>A
NM_001166579.2:c.527G>A	NP_001160051.1:p.Arg176Gln