Canonical Allele Identifier: CA401160893

Gene: AANAT

Linked Data

• dbSNP Id: rs1422374274
• gnomAD v2: 17-74465336-T-A
• gnomAD v4: 17-76469254-T-A
• MyVariant Identifiers: chr17:g.74465336T>A (hg19) ; chr17:g.76469254T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469254T>A , CM000679.2:g.76469254T>A	GRCh38
NC_000017.10:g.74465336T>A , CM000679.1:g.74465336T>A	GRCh37
NC_000017.9:g.71976931T>A	NCBI36
NG_015976.1:g.20904T>A
NG_032852.1:g.37174A>T , LRG_532:g.37174A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392492.8:c.245T>A MANE Select	ENSP00000376282.2:p.Leu82Gln
ENST00000250615.7:c.380T>A	ENSP00000250615.2:p.Leu127Gln
ENST00000392492.7:c.245T>A	ENSP00000376282.2:p.Leu82Gln
ENST00000585649.1:c.359T>A	ENSP00000468717.1:p.Leu120Gln
ENST00000587798.1:c.*22T>A	ENSP00000468239.1:n.*22T>A
NM_001088.2:c.245T>A	NP_001079.1:p.Leu82Gln
NM_001166579.1:c.380T>A	NP_001160051.1:p.Leu127Gln
NR_110548.1:n.556T>A
XM_011524415.1:c.245T>A	XP_011522717.1:p.Leu82Gln
XM_011524416.1:c.452T>A	XP_011522718.1:p.Leu151Gln
XM_011524417.1:c.452T>A	XP_011522719.1:p.Leu151Gln
XM_011524418.1:c.452T>A	XP_011522720.1:p.Leu151Gln
XM_011524419.1:c.452T>A	XP_011522721.1:p.Leu151Gln
XM_011524420.1:c.452T>A	XP_011522722.1:p.Leu151Gln
XM_011524421.1:c.452T>A	XP_011522723.1:p.Leu151Gln
XM_011524422.1:c.335T>A	XP_011522724.1:p.Leu112Gln
XM_011524423.1:c.245T>A	XP_011522725.1:p.Leu82Gln
XM_017024259.1:c.359T>A	XP_016879748.1:p.Leu120Gln
NM_001088.3:c.245T>A MANE Select	NP_001079.1:p.Leu82Gln
NR_110548.2:n.501T>A
NM_001166579.2:c.380T>A	NP_001160051.1:p.Leu127Gln