Canonical Allele Identifier: CA679866298

Gene: NADSYN1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71459957G>T , CM000673.2:g.71459957G>T	GRCh38
NC_000011.9:g.71171003G>T , CM000673.1:g.71171003G>T	GRCh37
NC_000011.8:g.70848651G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319023.7:c.263+1413G>T MANE Select	ENSP00000326424.2:n.263+1413G>T
ENST00000319023.6:c.263+1413G>T	ENSP00000326424.2:n.263+1413G>T
ENST00000524949.5:n.329+1413G>T
ENST00000525200.5:c.163+1413G>T
ENST00000525245.1:n.205-84G>T
ENST00000527538.5:n.602G>T
ENST00000528509.5:c.263+1413G>T	ENSP00000433472.1:n.263+1413G>T
ENST00000529120.5:c.*8+1401G>T	ENSP00000437220.1:n.*8+1401G>T
ENST00000533769.5:n.329+1413G>T
NM_018161.4:c.263+1413G>T	NP_060631.2:n.263+1413G>T
NM_018161.5:c.263+1413G>T MANE Select	NP_060631.2:n.263+1413G>T