Canonical Allele Identifier: CA347287988
Gene: NAT8 HGNC NCBI
ALMS1P1 HGNC NCBI

Linked Data

dbSNP Id: rs1260773292
gnomAD v2: 2-73868410-C-T
gnomAD v4: 2-73641283-C-T

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