Canonical Allele Identifier: CA427024921
Gene: NAT8 HGNC NCBI
ALMS1P1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.73868462G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641335G>A , CM000664.2:g.73641335G>A GRCh38
NC_000002.11:g.73868462G>A , CM000664.1:g.73868462G>A GRCh37
NC_000002.10:g.73721970G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.294C>T (NAT8) MANE Select ENSP00000272425.3:p.Thr98=
ENST00000652439.1:n.243+10G>A (ALMS1P1)
ENST00000272425.3:c.294C>T (NAT8) ENSP00000272425.3:p.Thr98=
NM_003960.3:c.294C>T (NAT8) NP_003951.3:p.Thr98=
NM_003960.4:c.294C>T (NAT8) MANE Select NP_003951.3:p.Thr98=
Search 100 bp 5'
Search 100 bp 3'