Canonical Allele Identifier: CA401161204

Gene: AANAT

Linked Data

• gnomAD v4: 17-76469735-T-G
• MyVariant Identifiers: chr17:g.74465817T>G (hg19) ; chr17:g.76469735T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469735T>G , CM000679.2:g.76469735T>G	GRCh38
NC_000017.10:g.74465817T>G , CM000679.1:g.74465817T>G	GRCh37
NC_000017.9:g.71977412T>G	NCBI36
NG_015976.1:g.21385T>G
NG_032852.1:g.36693A>C , LRG_532:g.36693A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392492.8:c.389T>G MANE Select	ENSP00000376282.2:p.Phe130Cys
ENST00000250615.7:c.524T>G	ENSP00000250615.2:p.Phe175Cys
ENST00000392492.7:c.389T>G	ENSP00000376282.2:p.Phe130Cys
ENST00000587798.1:c.*166T>G	ENSP00000468239.1:n.*166T>G
NM_001088.2:c.389T>G	NP_001079.1:p.Phe130Cys
NM_001166579.1:c.524T>G	NP_001160051.1:p.Phe175Cys
NR_110548.1:n.700T>G
XM_011524415.1:c.389T>G	XP_011522717.1:p.Phe130Cys
XM_011524416.1:c.596T>G	XP_011522718.1:p.Phe199Cys
XM_011524417.1:c.596T>G	XP_011522719.1:p.Phe199Cys
XM_011524418.1:c.596T>G	XP_011522720.1:p.Phe199Cys
XM_011524419.1:c.596T>G	XP_011522721.1:p.Phe199Cys
XM_011524420.1:c.596T>G	XP_011522722.1:p.Phe199Cys
XM_011524421.1:c.596T>G	XP_011522723.1:p.Phe199Cys
XM_011524422.1:c.479T>G	XP_011522724.1:p.Phe160Cys
XM_011524423.1:c.389T>G	XP_011522725.1:p.Phe130Cys
XM_017024259.1:c.503T>G	XP_016879748.1:p.Phe168Cys
NM_001088.3:c.389T>G MANE Select	NP_001079.1:p.Phe130Cys
NR_110548.2:n.645T>G
NM_001166579.2:c.524T>G	NP_001160051.1:p.Phe175Cys