Canonical Allele Identifier: CA401161159

Gene: AANAT

Linked Data

• gnomAD v4: 17-76469712-T-A
• MyVariant Identifiers: chr17:g.74465794T>A (hg19) ; chr17:g.76469712T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469712T>A , CM000679.2:g.76469712T>A	GRCh38
NC_000017.10:g.74465794T>A , CM000679.1:g.74465794T>A	GRCh37
NC_000017.9:g.71977389T>A	NCBI36
NG_015976.1:g.21362T>A
NG_032852.1:g.36716A>T , LRG_532:g.36716A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392492.8:c.366T>A MANE Select	ENSP00000376282.2:p.His122Gln
ENST00000250615.7:c.501T>A	ENSP00000250615.2:p.His167Gln
ENST00000392492.7:c.366T>A	ENSP00000376282.2:p.His122Gln
ENST00000587798.1:c.*143T>A	ENSP00000468239.1:n.*143T>A
NM_001088.2:c.366T>A	NP_001079.1:p.His122Gln
NM_001166579.1:c.501T>A	NP_001160051.1:p.His167Gln
NR_110548.1:n.677T>A
XM_011524415.1:c.366T>A	XP_011522717.1:p.His122Gln
XM_011524416.1:c.573T>A	XP_011522718.1:p.His191Gln
XM_011524417.1:c.573T>A	XP_011522719.1:p.His191Gln
XM_011524418.1:c.573T>A	XP_011522720.1:p.His191Gln
XM_011524419.1:c.573T>A	XP_011522721.1:p.His191Gln
XM_011524420.1:c.573T>A	XP_011522722.1:p.His191Gln
XM_011524421.1:c.573T>A	XP_011522723.1:p.His191Gln
XM_011524422.1:c.456T>A	XP_011522724.1:p.His152Gln
XM_011524423.1:c.366T>A	XP_011522725.1:p.His122Gln
XM_017024259.1:c.480T>A	XP_016879748.1:p.His160Gln
NM_001088.3:c.366T>A MANE Select	NP_001079.1:p.His122Gln
NR_110548.2:n.622T>A
NM_001166579.2:c.501T>A	NP_001160051.1:p.His167Gln