Canonical Allele Identifier: CA401161034

Gene: AANAT

Linked Data

• dbSNP Id: rs1373131906
• gnomAD v2: 17-74465402-T-C
• gnomAD v4: 17-76469320-T-C
• MyVariant Identifiers: chr17:g.74465402T>C (hg19) ; chr17:g.76469320T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469320T>C , CM000679.2:g.76469320T>C	GRCh38
NC_000017.10:g.74465402T>C , CM000679.1:g.74465402T>C	GRCh37
NC_000017.9:g.71976997T>C	NCBI36
NG_015976.1:g.20970T>C
NG_032852.1:g.37108A>G , LRG_532:g.37108A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392492.8:c.311T>C MANE Select	ENSP00000376282.2:p.Leu104Pro
ENST00000250615.7:c.446T>C	ENSP00000250615.2:p.Leu149Pro
ENST00000392492.7:c.311T>C	ENSP00000376282.2:p.Leu104Pro
ENST00000585649.1:c.425T>C	ENSP00000468717.1:p.Leu142Pro
ENST00000587798.1:c.*88T>C	ENSP00000468239.1:n.*88T>C
NM_001088.2:c.311T>C	NP_001079.1:p.Leu104Pro
NM_001166579.1:c.446T>C	NP_001160051.1:p.Leu149Pro
NR_110548.1:n.622T>C
XM_011524415.1:c.311T>C	XP_011522717.1:p.Leu104Pro
XM_011524416.1:c.518T>C	XP_011522718.1:p.Leu173Pro
XM_011524417.1:c.518T>C	XP_011522719.1:p.Leu173Pro
XM_011524418.1:c.518T>C	XP_011522720.1:p.Leu173Pro
XM_011524419.1:c.518T>C	XP_011522721.1:p.Leu173Pro
XM_011524420.1:c.518T>C	XP_011522722.1:p.Leu173Pro
XM_011524421.1:c.518T>C	XP_011522723.1:p.Leu173Pro
XM_011524422.1:c.401T>C	XP_011522724.1:p.Leu134Pro
XM_011524423.1:c.311T>C	XP_011522725.1:p.Leu104Pro
XM_017024259.1:c.425T>C	XP_016879748.1:p.Leu142Pro
NM_001088.3:c.311T>C MANE Select	NP_001079.1:p.Leu104Pro
NR_110548.2:n.567T>C
NM_001166579.2:c.446T>C	NP_001160051.1:p.Leu149Pro