Canonical Allele Identifier: CA1261057262
Gene: NAT8 HGNC NCBI
ALMS1P1 HGNC NCBI
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.335C= (NAT8) MANE Select ENSP00000272425.3:p.Ala112=
ENST00000652439.1:n.212G= (ALMS1P1)
ENST00000272425.3:c.335C= (NAT8) ENSP00000272425.3:p.Ala112=
NM_003960.3:c.335C= (NAT8) NP_003951.3:p.Ala112=
NM_003960.4:c.335C= (NAT8) MANE Select NP_003951.3:p.Ala112=
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