Canonical Allele Identifier: CA347288474

Gene: NAT8 ALMS1P1

Linked Data

• dbSNP Id: rs2103668756
• gnomAD v4: 2-73641336-G-A
• MyVariant Identifiers: chr2:g.73868463G>A (hg19) ; chr2:g.73641336G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73641336G>A , CM000664.2:g.73641336G>A	GRCh38
NC_000002.11:g.73868463G>A , CM000664.1:g.73868463G>A	GRCh37
NC_000002.10:g.73721971G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.293C>T (NAT8) MANE Select	ENSP00000272425.3:p.Thr98Ile
ENST00000652439.1:n.243+11G>A (ALMS1P1)
ENST00000272425.3:c.293C>T (NAT8)	ENSP00000272425.3:p.Thr98Ile
NM_003960.3:c.293C>T (NAT8)	NP_003951.3:p.Thr98Ile
NM_003960.4:c.293C>T (NAT8) MANE Select	NP_003951.3:p.Thr98Ile