Canonical Allele Identifier: CA401161050

Gene: AANAT

Linked Data

• MyVariant Identifiers: chr17:g.74465409G>T (hg19) ; chr17:g.76469327G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469327G>T , CM000679.2:g.76469327G>T	GRCh38
NC_000017.10:g.74465409G>T , CM000679.1:g.74465409G>T	GRCh37
NC_000017.9:g.71977004G>T	NCBI36
NG_015976.1:g.20977G>T
NG_032852.1:g.37101C>A , LRG_532:g.37101C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392492.8:c.318G>T MANE Select	ENSP00000376282.2:p.Gln106His
ENST00000250615.7:c.453G>T	ENSP00000250615.2:p.Gln151His
ENST00000392492.7:c.318G>T	ENSP00000376282.2:p.Gln106His
ENST00000585649.1:c.432G>T	ENSP00000468717.1:p.Gln144His
ENST00000587798.1:c.*95G>T	ENSP00000468239.1:n.*95G>T
NM_001088.2:c.318G>T	NP_001079.1:p.Gln106His
NM_001166579.1:c.453G>T	NP_001160051.1:p.Gln151His
NR_110548.1:n.629G>T
XM_011524415.1:c.318G>T	XP_011522717.1:p.Gln106His
XM_011524416.1:c.525G>T	XP_011522718.1:p.Gln175His
XM_011524417.1:c.525G>T	XP_011522719.1:p.Gln175His
XM_011524418.1:c.525G>T	XP_011522720.1:p.Gln175His
XM_011524419.1:c.525G>T	XP_011522721.1:p.Gln175His
XM_011524420.1:c.525G>T	XP_011522722.1:p.Gln175His
XM_011524421.1:c.525G>T	XP_011522723.1:p.Gln175His
XM_011524422.1:c.408G>T	XP_011522724.1:p.Gln136His
XM_011524423.1:c.318G>T	XP_011522725.1:p.Gln106His
XM_017024259.1:c.432G>T	XP_016879748.1:p.Gln144His
NM_001088.3:c.318G>T MANE Select	NP_001079.1:p.Gln106His
NR_110548.2:n.574G>T
NM_001166579.2:c.453G>T	NP_001160051.1:p.Gln151His