Canonical Allele Identifier: CA401161067

Gene: AANAT

Linked Data

• gnomAD v4: 17-76469666-A-T
• MyVariant Identifiers: chr17:g.74465748A>T (hg19) ; chr17:g.76469666A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469666A>T , CM000679.2:g.76469666A>T	GRCh38
NC_000017.10:g.74465748A>T , CM000679.1:g.74465748A>T	GRCh37
NC_000017.9:g.71977343A>T	NCBI36
NG_015976.1:g.21316A>T
NG_032852.1:g.36762T>A , LRG_532:g.36762T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392492.8:c.320A>T MANE Select	ENSP00000376282.2:p.Glu107Val
ENST00000250615.7:c.455A>T	ENSP00000250615.2:p.Glu152Val
ENST00000392492.7:c.320A>T	ENSP00000376282.2:p.Glu107Val
ENST00000585649.1:c.434A>T	ENSP00000468717.1:p.Glu145Val
ENST00000587798.1:c.*97A>T	ENSP00000468239.1:n.*97A>T
NM_001088.2:c.320A>T	NP_001079.1:p.Glu107Val
NM_001166579.1:c.455A>T	NP_001160051.1:p.Glu152Val
NR_110548.1:n.631A>T
XM_011524415.1:c.320A>T	XP_011522717.1:p.Glu107Val
XM_011524416.1:c.527A>T	XP_011522718.1:p.Glu176Val
XM_011524417.1:c.527A>T	XP_011522719.1:p.Glu176Val
XM_011524418.1:c.527A>T	XP_011522720.1:p.Glu176Val
XM_011524419.1:c.527A>T	XP_011522721.1:p.Glu176Val
XM_011524420.1:c.527A>T	XP_011522722.1:p.Glu176Val
XM_011524421.1:c.527A>T	XP_011522723.1:p.Glu176Val
XM_011524422.1:c.410A>T	XP_011522724.1:p.Glu137Val
XM_011524423.1:c.320A>T	XP_011522725.1:p.Glu107Val
XM_017024259.1:c.434A>T	XP_016879748.1:p.Glu145Val
NM_001088.3:c.320A>T MANE Select	NP_001079.1:p.Glu107Val
NR_110548.2:n.576A>T
NM_001166579.2:c.455A>T	NP_001160051.1:p.Glu152Val