Canonical Allele Identifier: CA294176765

Gene: AANAT

Linked Data

• dbSNP Id: rs889576867
• gnomAD v4: 17-76467623-T-C
• MyVariant Identifiers: chr17:g.74463705T>C (hg19) ; chr17:g.76467623T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76467623T>C , CM000679.2:g.76467623T>C	GRCh38
NC_000017.10:g.74463705T>C , CM000679.1:g.74463705T>C	GRCh37
NC_000017.9:g.71975300T>C	NCBI36
NG_015976.1:g.19273T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392492.8:c.-180T>C MANE Select	ENSP00000376282.2:n.-180T>C
ENST00000250615.7:c.61-1049T>C	ENSP00000250615.2:n.61-1049T>C
ENST00000392492.7:c.-180T>C	ENSP00000376282.2:n.-180T>C
NM_001088.2:c.-180T>C	NP_001079.1:n.-180T>C
NM_001166579.1:c.61-1049T>C	NP_001160051.1:n.61-1049T>C
NR_110548.1:n.76T>C
XM_011524415.1:c.-75-1049T>C	XP_011522717.1:n.-75-1049T>C
XM_011524416.1:c.133-1049T>C	XP_011522718.1:n.133-1049T>C
XM_011524417.1:c.133-1049T>C	XP_011522719.1:n.133-1049T>C
XM_011524418.1:c.133-1049T>C	XP_011522720.1:n.133-1049T>C
XM_011524419.1:c.133-1049T>C	XP_011522721.1:n.133-1049T>C
XM_011524420.1:c.133-1049T>C	XP_011522722.1:n.133-1049T>C
XM_011524421.1:c.133-1049T>C	XP_011522723.1:n.133-1049T>C
XM_011524422.1:c.16-1049T>C	XP_011522724.1:n.16-1049T>C
XM_011524423.1:c.-75-1049T>C	XP_011522725.1:n.-75-1049T>C
XM_017024259.1:c.-1010T>C	XP_016879748.1:n.-1010T>C
NM_001088.3:c.-180T>C MANE Select	NP_001079.1:n.-180T>C
NR_110548.2:n.21T>C
NM_001166579.2:c.61-1049T>C	NP_001160051.1:n.61-1049T>C