Canonical Allele Identifier: CA627446131

Gene: AANAT

Linked Data

• dbSNP Id: rs1386997461
• gnomAD v2: 17-74463433-G-A
• gnomAD v3: 17-76467351-G-A
• gnomAD v4: 17-76467351-G-A
• MyVariant Identifiers: chr17:g.74463433G>A (hg19) ; chr17:g.76467351G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76467351G>A , CM000679.2:g.76467351G>A	GRCh38
NC_000017.10:g.74463433G>A , CM000679.1:g.74463433G>A	GRCh37
NC_000017.9:g.71975028G>A	NCBI36
NG_015976.1:g.19001G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000250615.7:c.60+1119G>A	ENSP00000250615.2:n.60+1119G>A
NM_001166579.1:c.60+1119G>A	NP_001160051.1:n.60+1119G>A
XM_011524415.1:c.-75-1321G>A	XP_011522717.1:n.-75-1321G>A
XM_011524416.1:c.133-1321G>A	XP_011522718.1:n.133-1321G>A
XM_011524417.1:c.133-1321G>A	XP_011522719.1:n.133-1321G>A
XM_011524418.1:c.133-1321G>A	XP_011522720.1:n.133-1321G>A
XM_011524419.1:c.133-1321G>A	XP_011522721.1:n.133-1321G>A
XM_011524420.1:c.133-1321G>A	XP_011522722.1:n.133-1321G>A
XM_011524421.1:c.133-1321G>A	XP_011522723.1:n.133-1321G>A
XM_011524422.1:c.16-1321G>A	XP_011522724.1:n.16-1321G>A
XM_011524423.1:c.-76+1040G>A	XP_011522725.1:n.-76+1040G>A
XM_017024259.1:c.-1282G>A	XP_016879748.1:n.-1282G>A
NM_001166579.2:c.60+1119G>A	NP_001160051.1:n.60+1119G>A