Canonical Allele Identifier: CA347290039

Gene: NAT8 ALMS1P1

Linked Data

• dbSNP Id: rs1186959139
• gnomAD v2: 2-73868504-C-G
• gnomAD v4: 2-73641377-C-G
• COSMIC: COSM375321
• MyVariant Identifiers: chr2:g.73868504C>G (hg19) ; chr2:g.73641377C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73641377C>G , CM000664.2:g.73641377C>G	GRCh38
NC_000002.11:g.73868504C>G , CM000664.1:g.73868504C>G	GRCh37
NC_000002.10:g.73722012C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.252G>C (NAT8) MANE Select	ENSP00000272425.3:p.Glu84Asp
ENST00000652439.1:n.243+52C>G (ALMS1P1)
ENST00000272425.3:c.252G>C (NAT8)	ENSP00000272425.3:p.Glu84Asp
NM_003960.3:c.252G>C (NAT8)	NP_003951.3:p.Glu84Asp
NM_003960.4:c.252G>C (NAT8) MANE Select	NP_003951.3:p.Glu84Asp