Canonical Allele Identifier: CA1261057309

Gene: NAT8 ALMS1P1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73641378T= , CM000664.2:g.73641378T=	GRCh38
NC_000002.11:g.73868505T= , CM000664.1:g.73868505T=	GRCh37
NC_000002.10:g.73722013T=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.251A= (NAT8) MANE Select	ENSP00000272425.3:p.Glu84=
ENST00000652439.1:n.243+53T= (ALMS1P1)
ENST00000272425.3:c.251A= (NAT8)	ENSP00000272425.3:p.Glu84=
NM_003960.3:c.251A= (NAT8)	NP_003951.3:p.Glu84=
NM_003960.4:c.251A= (NAT8) MANE Select	NP_003951.3:p.Glu84=