Canonical Allele Identifier: CA8786525

Gene: AANAT

Linked Data

• dbSNP Id: rs772443673
• ExAC: 17:74465338 G / A
• gnomAD v2: 17-74465338-G-A
• gnomAD v3: 17-76469256-G-A
• gnomAD v4: 17-76469256-G-A
• MyVariant Identifiers: chr17:g.74465338G>A (hg19) ; chr17:g.76469256G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469256G>A , CM000679.2:g.76469256G>A	GRCh38
NC_000017.10:g.74465338G>A , CM000679.1:g.74465338G>A	GRCh37
NC_000017.9:g.71976933G>A	NCBI36
NG_015976.1:g.20906G>A
NG_032852.1:g.37172C>T , LRG_532:g.37172C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392492.8:c.247G>A MANE Select	ENSP00000376282.2:p.Gly83Ser
ENST00000250615.7:c.382G>A	ENSP00000250615.2:p.Gly128Ser
ENST00000392492.7:c.247G>A	ENSP00000376282.2:p.Gly83Ser
ENST00000585649.1:c.361G>A	ENSP00000468717.1:p.Gly121Ser
ENST00000587798.1:c.*24G>A	ENSP00000468239.1:n.*24G>A
NM_001088.2:c.247G>A	NP_001079.1:p.Gly83Ser
NM_001166579.1:c.382G>A	NP_001160051.1:p.Gly128Ser
NR_110548.1:n.558G>A
XM_011524415.1:c.247G>A	XP_011522717.1:p.Gly83Ser
XM_011524416.1:c.454G>A	XP_011522718.1:p.Gly152Ser
XM_011524417.1:c.454G>A	XP_011522719.1:p.Gly152Ser
XM_011524418.1:c.454G>A	XP_011522720.1:p.Gly152Ser
XM_011524419.1:c.454G>A	XP_011522721.1:p.Gly152Ser
XM_011524420.1:c.454G>A	XP_011522722.1:p.Gly152Ser
XM_011524421.1:c.454G>A	XP_011522723.1:p.Gly152Ser
XM_011524422.1:c.337G>A	XP_011522724.1:p.Gly113Ser
XM_011524423.1:c.247G>A	XP_011522725.1:p.Gly83Ser
XM_017024259.1:c.361G>A	XP_016879748.1:p.Gly121Ser
NM_001088.3:c.247G>A MANE Select	NP_001079.1:p.Gly83Ser
NR_110548.2:n.503G>A
NM_001166579.2:c.382G>A	NP_001160051.1:p.Gly128Ser