Canonical Allele Identifier: CA2792628950
Gene: NADSYN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71456422G>A , CM000673.2:g.71456422G>A GRCh38
NC_000011.9:g.71167468G>A , CM000673.1:g.71167468G>A GRCh37
NC_000011.8:g.70845116G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000319023.7:c.146+1252G>A MANE Select ENSP00000326424.2:n.146+1252G>A
ENST00000319023.6:c.146+1252G>A ENSP00000326424.2:n.146+1252G>A
ENST00000524949.5:n.212+1252G>A
ENST00000525200.5:c.46+1252G>A
ENST00000525245.1:n.87+1252G>A
ENST00000527538.5:n.202+1252G>A
ENST00000528509.5:c.146+1252G>A ENSP00000433472.1:n.146+1252G>A
ENST00000529120.5:c.146+1252G>A ENSP00000437220.1:n.146+1252G>A
ENST00000533769.5:n.212+1252G>A
ENST00000534634.5:n.334+1252G>A
NM_018161.4:c.146+1252G>A NP_060631.2:n.146+1252G>A
NM_018161.5:c.146+1252G>A MANE Select NP_060631.2:n.146+1252G>A
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