Canonical Allele Identifier: CA401161002

Gene: AANAT

Linked Data

• ClinVar Variation Id: 3133743
• ClinVar RCV Id: RCV004429029
• MyVariant Identifiers: chr17:g.74465389G>C (hg19) ; chr17:g.76469307G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469307G>C , CM000679.2:g.76469307G>C	GRCh38
NC_000017.10:g.74465389G>C , CM000679.1:g.74465389G>C	GRCh37
NC_000017.9:g.71976984G>C	NCBI36
NG_015976.1:g.20957G>C
NG_032852.1:g.37121C>G , LRG_532:g.37121C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392492.8:c.298G>C MANE Select	ENSP00000376282.2:p.Asp100His
ENST00000250615.7:c.433G>C	ENSP00000250615.2:p.Asp145His
ENST00000392492.7:c.298G>C	ENSP00000376282.2:p.Asp100His
ENST00000585649.1:c.412G>C	ENSP00000468717.1:p.Asp138His
ENST00000587798.1:c.*75G>C	ENSP00000468239.1:n.*75G>C
NM_001088.2:c.298G>C	NP_001079.1:p.Asp100His
NM_001166579.1:c.433G>C	NP_001160051.1:p.Asp145His
NR_110548.1:n.609G>C
XM_011524415.1:c.298G>C	XP_011522717.1:p.Asp100His
XM_011524416.1:c.505G>C	XP_011522718.1:p.Asp169His
XM_011524417.1:c.505G>C	XP_011522719.1:p.Asp169His
XM_011524418.1:c.505G>C	XP_011522720.1:p.Asp169His
XM_011524419.1:c.505G>C	XP_011522721.1:p.Asp169His
XM_011524420.1:c.505G>C	XP_011522722.1:p.Asp169His
XM_011524421.1:c.505G>C	XP_011522723.1:p.Asp169His
XM_011524422.1:c.388G>C	XP_011522724.1:p.Asp130His
XM_011524423.1:c.298G>C	XP_011522725.1:p.Asp100His
XM_017024259.1:c.412G>C	XP_016879748.1:p.Asp138His
NM_001088.3:c.298G>C MANE Select	NP_001079.1:p.Asp100His
NR_110548.2:n.554G>C
NM_001166579.2:c.433G>C	NP_001160051.1:p.Asp145His