Canonical Allele Identifier: CA8786541

Gene: AANAT

Linked Data

• dbSNP Id: rs369158061
• ExAC: 17:74465394 G / A
• gnomAD v2: 17-74465394-G-A
• gnomAD v3: 17-76469312-G-A
• gnomAD v4: 17-76469312-G-A
• MyVariant Identifiers: chr17:g.74465394G>A (hg19) ; chr17:g.76469312G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469312G>A , CM000679.2:g.76469312G>A	GRCh38
NC_000017.10:g.74465394G>A , CM000679.1:g.74465394G>A	GRCh37
NC_000017.9:g.71976989G>A	NCBI36
NG_015976.1:g.20962G>A
NG_032852.1:g.37116C>T , LRG_532:g.37116C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392492.8:c.303G>A MANE Select	ENSP00000376282.2:p.Lys101=
ENST00000250615.7:c.438G>A	ENSP00000250615.2:p.Lys146=
ENST00000392492.7:c.303G>A	ENSP00000376282.2:p.Lys101=
ENST00000585649.1:c.417G>A	ENSP00000468717.1:p.Lys139=
ENST00000587798.1:c.*80G>A	ENSP00000468239.1:n.*80G>A
NM_001088.2:c.303G>A	NP_001079.1:p.Lys101=
NM_001166579.1:c.438G>A	NP_001160051.1:p.Lys146=
NR_110548.1:n.614G>A
XM_011524415.1:c.303G>A	XP_011522717.1:p.Lys101=
XM_011524416.1:c.510G>A	XP_011522718.1:p.Lys170=
XM_011524417.1:c.510G>A	XP_011522719.1:p.Lys170=
XM_011524418.1:c.510G>A	XP_011522720.1:p.Lys170=
XM_011524419.1:c.510G>A	XP_011522721.1:p.Lys170=
XM_011524420.1:c.510G>A	XP_011522722.1:p.Lys170=
XM_011524421.1:c.510G>A	XP_011522723.1:p.Lys170=
XM_011524422.1:c.393G>A	XP_011522724.1:p.Lys131=
XM_011524423.1:c.303G>A	XP_011522725.1:p.Lys101=
XM_017024259.1:c.417G>A	XP_016879748.1:p.Lys139=
NM_001088.3:c.303G>A MANE Select	NP_001079.1:p.Lys101=
NR_110548.2:n.559G>A
NM_001166579.2:c.438G>A	NP_001160051.1:p.Lys146=