Canonical Allele Identifier: CA347288100
Gene: NAT8 HGNC NCBI
ALMS1P1 HGNC NCBI

Linked Data

gnomAD v4: 2-73641294-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641294G>A , CM000664.2:g.73641294G>A GRCh38
NC_000002.11:g.73868421G>A , CM000664.1:g.73868421G>A GRCh37
NC_000002.10:g.73721929G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.335C>T (NAT8) MANE Select ENSP00000272425.3:p.Ala112Val
ENST00000652439.1:n.212G>A (ALMS1P1)
ENST00000272425.3:c.335C>T (NAT8) ENSP00000272425.3:p.Ala112Val
NM_003960.3:c.335C>T (NAT8) NP_003951.3:p.Ala112Val
NM_003960.4:c.335C>T (NAT8) MANE Select NP_003951.3:p.Ala112Val