Canonical Allele Identifier: CA1715676

Gene: NAT8 ALMS1P1

Linked Data

• dbSNP Id: rs745439157
• ExAC: 2:73868242 C / A
• gnomAD v2: 2-73868242-C-A
• gnomAD v3: 2-73641115-C-A
• gnomAD v4: 2-73641115-C-A
• MyVariant Identifiers: chr2:g.73868242C>A (hg19) ; chr2:g.73641115C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73641115C>A , CM000664.2:g.73641115C>A	GRCh38
NC_000002.11:g.73868242C>A , CM000664.1:g.73868242C>A	GRCh37
NC_000002.10:g.73721750C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.514G>T (NAT8) MANE Select	ENSP00000272425.3:p.Glu172Ter
ENST00000652439.1:n.33C>A (ALMS1P1)
ENST00000272425.3:c.514G>T (NAT8)	ENSP00000272425.3:p.Glu172Ter
NM_003960.3:c.514G>T (NAT8)	NP_003951.3:p.Glu172Ter
NM_003960.4:c.514G>T (NAT8) MANE Select	NP_003951.3:p.Glu172Ter