Canonical Allele Identifier: CA347287988

Gene: NAT8 ALMS1P1

Linked Data

• dbSNP Id: rs1260773292
• gnomAD v2: 2-73868410-C-T
• gnomAD v4: 2-73641283-C-T
• MyVariant Identifiers: chr2:g.73868410C>T (hg19) ; chr2:g.73641283C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73641283C>T , CM000664.2:g.73641283C>T	GRCh38
NC_000002.11:g.73868410C>T , CM000664.1:g.73868410C>T	GRCh37
NC_000002.10:g.73721918C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.346G>A (NAT8) MANE Select	ENSP00000272425.3:p.Glu116Lys
ENST00000652439.1:n.201C>T (ALMS1P1)
ENST00000272425.3:c.346G>A (NAT8)	ENSP00000272425.3:p.Glu116Lys
NM_003960.3:c.346G>A (NAT8)	NP_003951.3:p.Glu116Lys
NM_003960.4:c.346G>A (NAT8) MANE Select	NP_003951.3:p.Glu116Lys