Canonical Allele Identifier: CA1715675

Gene: NAT8 ALMS1P1

Linked Data

• dbSNP Id: rs780887369
• ExAC: 2:73868236 T / C
• gnomAD v2: 2-73868236-T-C
• gnomAD v3: 2-73641109-T-C
• gnomAD v4: 2-73641109-T-C
• MyVariant Identifiers: chr2:g.73868236T>C (hg19) ; chr2:g.73641109T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73641109T>C , CM000664.2:g.73641109T>C	GRCh38
NC_000002.11:g.73868236T>C , CM000664.1:g.73868236T>C	GRCh37
NC_000002.10:g.73721744T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.520A>G (NAT8) MANE Select	ENSP00000272425.3:p.Ile174Val
ENST00000652439.1:n.27T>C (ALMS1P1)
ENST00000272425.3:c.520A>G (NAT8)	ENSP00000272425.3:p.Ile174Val
NM_003960.3:c.520A>G (NAT8)	NP_003951.3:p.Ile174Val
NM_003960.4:c.520A>G (NAT8) MANE Select	NP_003951.3:p.Ile174Val