Canonical Allele Identifier: CA2276011954
Community Standard Title: NM_001088.3(AANAT):c.385G= (p.Ala129=)
Gene: AANAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.76469731G= , CM000679.2:g.76469731G= GRCh38
NC_000017.10:g.74465813G= , CM000679.1:g.74465813G= GRCh37
NC_000017.9:g.71977408G= NCBI36
NG_015976.1:g.21381G=
NG_032852.1:g.36697C= , LRG_532:g.36697C=

Transcript Alleles

HGVS Amino-acid Change
NM_001088.3:c.385G= MANE Select NP_001079.1:p.Ala129=
ENST00000392492.8:c.385G= MANE Select ENSP00000376282.2:p.Ala129=
NM_001088.2:c.385G= NP_001079.1:p.Ala129=
NM_001166579.1:c.520G= NP_001160051.1:p.Ala174=
NM_001166579.2:c.520G= NP_001160051.1:p.Ala174=
NR_110548.1:n.696G=
NR_110548.2:n.641G=
ENST00000250615.7:c.520G= ENSP00000250615.2:p.Ala174=
ENST00000392492.7:c.385G= ENSP00000376282.2:p.Ala129=
ENST00000587798.1:c.*162G= ENSP00000468239.1:n.*162G=
XM_011524415.1:c.385G= XP_011522717.1:p.Ala129=
XM_011524416.1:c.592G= XP_011522718.1:p.Ala198=
XM_011524417.1:c.592G= XP_011522719.1:p.Ala198=
XM_011524418.1:c.592G= XP_011522720.1:p.Ala198=
XM_011524419.1:c.592G= XP_011522721.1:p.Ala198=
XM_011524420.1:c.592G= XP_011522722.1:p.Ala198=
XM_011524421.1:c.592G= XP_011522723.1:p.Ala198=
XM_011524422.1:c.475G= XP_011522724.1:p.Ala159=
XM_011524423.1:c.385G= XP_011522725.1:p.Ala129=
XM_017024259.1:c.499G= XP_016879748.1:p.Ala167=