Canonical Allele Identifier: CA501886179

Gene: AANAT

Linked Data

• gnomAD v4: 17-76469303-C-A
• MyVariant Identifiers: chr17:g.74465385C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469303C>A , CM000679.2:g.76469303C>A	GRCh38
NC_000017.10:g.74465385C>A , CM000679.1:g.74465385C>A	GRCh37
NC_000017.9:g.71976980C>A	NCBI36
NG_015976.1:g.20953C>A
NG_032852.1:g.37125G>T , LRG_532:g.37125G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392492.8:c.294C>A MANE Select	ENSP00000376282.2:p.Leu98=
ENST00000250615.7:c.429C>A	ENSP00000250615.2:p.Leu143=
ENST00000392492.7:c.294C>A	ENSP00000376282.2:p.Leu98=
ENST00000585649.1:c.408C>A	ENSP00000468717.1:p.Leu136=
ENST00000587798.1:c.*71C>A	ENSP00000468239.1:n.*71C>A
NM_001088.2:c.294C>A	NP_001079.1:p.Leu98=
NM_001166579.1:c.429C>A	NP_001160051.1:p.Leu143=
NR_110548.1:n.605C>A
XM_011524415.1:c.294C>A	XP_011522717.1:p.Leu98=
XM_011524416.1:c.501C>A	XP_011522718.1:p.Leu167=
XM_011524417.1:c.501C>A	XP_011522719.1:p.Leu167=
XM_011524418.1:c.501C>A	XP_011522720.1:p.Leu167=
XM_011524419.1:c.501C>A	XP_011522721.1:p.Leu167=
XM_011524420.1:c.501C>A	XP_011522722.1:p.Leu167=
XM_011524421.1:c.501C>A	XP_011522723.1:p.Leu167=
XM_011524422.1:c.384C>A	XP_011522724.1:p.Leu128=
XM_011524423.1:c.294C>A	XP_011522725.1:p.Leu98=
XM_017024259.1:c.408C>A	XP_016879748.1:p.Leu136=
NM_001088.3:c.294C>A MANE Select	NP_001079.1:p.Leu98=
NR_110548.2:n.550C>A
NM_001166579.2:c.429C>A	NP_001160051.1:p.Leu143=