Canonical Allele Identifier: CA1715705

Gene: NAT8 ALMS1P1

Linked Data

• dbSNP Id: rs762993306
• ExAC: 2:73868326 C / G
• gnomAD v2: 2-73868326-C-G
• gnomAD v3: 2-73641199-C-G
• gnomAD v4: 2-73641199-C-G
• MyVariant Identifiers: chr2:g.73868326C>G (hg19) ; chr2:g.73868326_73868328delinsGAA (hg19) ; chr2:g.73641199C>G (hg38) ; chr2:g.73641199_73641201delinsGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73641199C>G , CM000664.2:g.73641199C>G	GRCh38
NC_000002.11:g.73868326C>G , CM000664.1:g.73868326C>G	GRCh37
NC_000002.10:g.73721834C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.430G>C (NAT8) MANE Select	ENSP00000272425.3:p.Val144Leu
ENST00000652439.1:n.117C>G (ALMS1P1)
ENST00000272425.3:c.430G>C (NAT8)	ENSP00000272425.3:p.Val144Leu
NM_003960.3:c.430G>C (NAT8)	NP_003951.3:p.Val144Leu
NM_003960.4:c.430G>C (NAT8) MANE Select	NP_003951.3:p.Val144Leu