Canonical Allele Identifier: CA401160990

Gene: AANAT

Linked Data

• MyVariant Identifiers: chr17:g.74465384T>A (hg19) ; chr17:g.76469302T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469302T>A , CM000679.2:g.76469302T>A	GRCh38
NC_000017.10:g.74465384T>A , CM000679.1:g.74465384T>A	GRCh37
NC_000017.9:g.71976979T>A	NCBI36
NG_015976.1:g.20952T>A
NG_032852.1:g.37126A>T , LRG_532:g.37126A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392492.8:c.293T>A MANE Select	ENSP00000376282.2:p.Leu98His
ENST00000250615.7:c.428T>A	ENSP00000250615.2:p.Leu143His
ENST00000392492.7:c.293T>A	ENSP00000376282.2:p.Leu98His
ENST00000585649.1:c.407T>A	ENSP00000468717.1:p.Leu136His
ENST00000587798.1:c.*70T>A	ENSP00000468239.1:n.*70T>A
NM_001088.2:c.293T>A	NP_001079.1:p.Leu98His
NM_001166579.1:c.428T>A	NP_001160051.1:p.Leu143His
NR_110548.1:n.604T>A
XM_011524415.1:c.293T>A	XP_011522717.1:p.Leu98His
XM_011524416.1:c.500T>A	XP_011522718.1:p.Leu167His
XM_011524417.1:c.500T>A	XP_011522719.1:p.Leu167His
XM_011524418.1:c.500T>A	XP_011522720.1:p.Leu167His
XM_011524419.1:c.500T>A	XP_011522721.1:p.Leu167His
XM_011524420.1:c.500T>A	XP_011522722.1:p.Leu167His
XM_011524421.1:c.500T>A	XP_011522723.1:p.Leu167His
XM_011524422.1:c.383T>A	XP_011522724.1:p.Leu128His
XM_011524423.1:c.293T>A	XP_011522725.1:p.Leu98His
XM_017024259.1:c.407T>A	XP_016879748.1:p.Leu136His
NM_001088.3:c.293T>A MANE Select	NP_001079.1:p.Leu98His
NR_110548.2:n.549T>A
NM_001166579.2:c.428T>A	NP_001160051.1:p.Leu143His