Canonical Allele Identifier: CA1981496872
Gene: NADSYN1 HGNC NCBI

Linked Data

dbSNP Id: rs1227827241
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71456328T>C , CM000673.2:g.71456328T>C GRCh38
NC_000011.9:g.71167374T>C , CM000673.1:g.71167374T>C GRCh37
NC_000011.8:g.70845022T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000319023.7:c.146+1158T>C MANE Select ENSP00000326424.2:n.146+1158T>C
ENST00000319023.6:c.146+1158T>C ENSP00000326424.2:n.146+1158T>C
ENST00000524949.5:n.212+1158T>C
ENST00000525200.5:c.46+1158T>C
ENST00000525245.1:n.87+1158T>C
ENST00000527538.5:n.202+1158T>C
ENST00000528509.5:c.146+1158T>C ENSP00000433472.1:n.146+1158T>C
ENST00000529120.5:c.146+1158T>C ENSP00000437220.1:n.146+1158T>C
ENST00000533769.5:n.212+1158T>C
ENST00000534634.5:n.334+1158T>C
NM_018161.4:c.146+1158T>C NP_060631.2:n.146+1158T>C
NM_018161.5:c.146+1158T>C MANE Select NP_060631.2:n.146+1158T>C
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