Canonical Allele Identifier: CA627599485

Gene: AANAT

Linked Data

• dbSNP Id: rs1487132855
• gnomAD v2: 17-74465436-T-A
• gnomAD v4: 17-76469354-T-A
• MyVariant Identifiers: chr17:g.74465436T>A (hg19) ; chr17:g.76469354T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469354T>A , CM000679.2:g.76469354T>A	GRCh38
NC_000017.10:g.74465436T>A , CM000679.1:g.74465436T>A	GRCh37
NC_000017.9:g.71977031T>A	NCBI36
NG_015976.1:g.21004T>A
NG_032852.1:g.37074A>T , LRG_532:g.37074A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392492.8:c.318+27T>A MANE Select	ENSP00000376282.2:n.318+27T>A
ENST00000250615.7:c.453+27T>A	ENSP00000250615.2:n.453+27T>A
ENST00000392492.7:c.318+27T>A	ENSP00000376282.2:n.318+27T>A
ENST00000585649.1:c.432+27T>A	ENSP00000468717.1:n.432+27T>A
ENST00000587798.1:c.*95+27T>A	ENSP00000468239.1:n.*95+27T>A
NM_001088.2:c.318+27T>A	NP_001079.1:n.318+27T>A
NM_001166579.1:c.453+27T>A	NP_001160051.1:n.453+27T>A
NR_110548.1:n.629+27T>A
XM_011524415.1:c.318+27T>A	XP_011522717.1:n.318+27T>A
XM_011524416.1:c.525+27T>A	XP_011522718.1:n.525+27T>A
XM_011524417.1:c.525+27T>A	XP_011522719.1:n.525+27T>A
XM_011524418.1:c.525+27T>A	XP_011522720.1:n.525+27T>A
XM_011524419.1:c.525+27T>A	XP_011522721.1:n.525+27T>A
XM_011524420.1:c.525+27T>A	XP_011522722.1:n.525+27T>A
XM_011524421.1:c.525+27T>A	XP_011522723.1:n.525+27T>A
XM_011524422.1:c.408+27T>A	XP_011522724.1:n.408+27T>A
XM_011524423.1:c.318+27T>A	XP_011522725.1:n.318+27T>A
XM_017024259.1:c.432+27T>A	XP_016879748.1:n.432+27T>A
NM_001088.3:c.318+27T>A MANE Select	NP_001079.1:n.318+27T>A
NR_110548.2:n.574+27T>A
NM_001166579.2:c.453+27T>A	NP_001160051.1:n.453+27T>A