Canonical Allele Identifier: CA8786537

Gene: AANAT

Linked Data

• dbSNP Id: rs577400794
• ExAC: 17:74465381 C / G
• gnomAD v2: 17-74465381-C-G
• gnomAD v3: 17-76469299-C-G
• gnomAD v4: 17-76469299-C-G
• MyVariant Identifiers: chr17:g.74465381C>G (hg19) ; chr17:g.76469299C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469299C>G , CM000679.2:g.76469299C>G	GRCh38
NC_000017.10:g.74465381C>G , CM000679.1:g.74465381C>G	GRCh37
NC_000017.9:g.71976976C>G	NCBI36
NG_015976.1:g.20949C>G
NG_032852.1:g.37129G>C , LRG_532:g.37129G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392492.8:c.290C>G MANE Select	ENSP00000376282.2:p.Ser97Trp
ENST00000250615.7:c.425C>G	ENSP00000250615.2:p.Ser142Trp
ENST00000392492.7:c.290C>G	ENSP00000376282.2:p.Ser97Trp
ENST00000585649.1:c.404C>G	ENSP00000468717.1:p.Ser135Trp
ENST00000587798.1:c.*67C>G	ENSP00000468239.1:n.*67C>G
NM_001088.2:c.290C>G	NP_001079.1:p.Ser97Trp
NM_001166579.1:c.425C>G	NP_001160051.1:p.Ser142Trp
NR_110548.1:n.601C>G
XM_011524415.1:c.290C>G	XP_011522717.1:p.Ser97Trp
XM_011524416.1:c.497C>G	XP_011522718.1:p.Ser166Trp
XM_011524417.1:c.497C>G	XP_011522719.1:p.Ser166Trp
XM_011524418.1:c.497C>G	XP_011522720.1:p.Ser166Trp
XM_011524419.1:c.497C>G	XP_011522721.1:p.Ser166Trp
XM_011524420.1:c.497C>G	XP_011522722.1:p.Ser166Trp
XM_011524421.1:c.497C>G	XP_011522723.1:p.Ser166Trp
XM_011524422.1:c.380C>G	XP_011522724.1:p.Ser127Trp
XM_011524423.1:c.290C>G	XP_011522725.1:p.Ser97Trp
XM_017024259.1:c.404C>G	XP_016879748.1:p.Ser135Trp
NM_001088.3:c.290C>G MANE Select	NP_001079.1:p.Ser97Trp
NR_110548.2:n.546C>G
NM_001166579.2:c.425C>G	NP_001160051.1:p.Ser142Trp