Canonical Allele Identifier: CA1715697

Gene: NAT8 ALMS1P1

Linked Data

• dbSNP Id: rs368778053
• ExAC: 2:73868307 C / T
• gnomAD v2: 2-73868307-C-T
• gnomAD v3: 2-73641180-C-T
• gnomAD v4: 2-73641180-C-T
• COSMIC: COSM2998653
• MyVariant Identifiers: chr2:g.73868307C>T (hg19) ; chr2:g.73641180C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73641180C>T , CM000664.2:g.73641180C>T	GRCh38
NC_000002.11:g.73868307C>T , CM000664.1:g.73868307C>T	GRCh37
NC_000002.10:g.73721815C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.449G>A (NAT8) MANE Select	ENSP00000272425.3:p.Arg150His
ENST00000652439.1:n.98C>T (ALMS1P1)
ENST00000272425.3:c.449G>A (NAT8)	ENSP00000272425.3:p.Arg150His
NM_003960.3:c.449G>A (NAT8)	NP_003951.3:p.Arg150His
NM_003960.4:c.449G>A (NAT8) MANE Select	NP_003951.3:p.Arg150His