Canonical Allele Identifier: CA501886238

Gene: AANAT

Linked Data

• dbSNP Id: rs1324831326
• gnomAD v4: 17-76469318-A-G
• MyVariant Identifiers: chr17:g.74465400A>G (hg19) ; chr17:g.76469318A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469318A>G , CM000679.2:g.76469318A>G	GRCh38
NC_000017.10:g.74465400A>G , CM000679.1:g.74465400A>G	GRCh37
NC_000017.9:g.71976995A>G	NCBI36
NG_015976.1:g.20968A>G
NG_032852.1:g.37110T>C , LRG_532:g.37110T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392492.8:c.309A>G MANE Select	ENSP00000376282.2:p.Arg103=
ENST00000250615.7:c.444A>G	ENSP00000250615.2:p.Arg148=
ENST00000392492.7:c.309A>G	ENSP00000376282.2:p.Arg103=
ENST00000585649.1:c.423A>G	ENSP00000468717.1:p.Arg141=
ENST00000587798.1:c.*86A>G	ENSP00000468239.1:n.*86A>G
NM_001088.2:c.309A>G	NP_001079.1:p.Arg103=
NM_001166579.1:c.444A>G	NP_001160051.1:p.Arg148=
NR_110548.1:n.620A>G
XM_011524415.1:c.309A>G	XP_011522717.1:p.Arg103=
XM_011524416.1:c.516A>G	XP_011522718.1:p.Arg172=
XM_011524417.1:c.516A>G	XP_011522719.1:p.Arg172=
XM_011524418.1:c.516A>G	XP_011522720.1:p.Arg172=
XM_011524419.1:c.516A>G	XP_011522721.1:p.Arg172=
XM_011524420.1:c.516A>G	XP_011522722.1:p.Arg172=
XM_011524421.1:c.516A>G	XP_011522723.1:p.Arg172=
XM_011524422.1:c.399A>G	XP_011522724.1:p.Arg133=
XM_011524423.1:c.309A>G	XP_011522725.1:p.Arg103=
XM_017024259.1:c.423A>G	XP_016879748.1:p.Arg141=
NM_001088.3:c.309A>G MANE Select	NP_001079.1:p.Arg103=
NR_110548.2:n.565A>G
NM_001166579.2:c.444A>G	NP_001160051.1:p.Arg148=