Canonical Allele Identifier: CA13554203

Gene: NADSYN1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71472691T>C , CM000673.2:g.71472691T>C	GRCh38
NC_000011.9:g.71183737T>C , CM000673.1:g.71183737T>C	GRCh37
NC_000011.8:g.70861385T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319023.7:c.459+191T>C MANE Select	ENSP00000326424.2:n.459+191T>C
ENST00000319023.6:c.459+191T>C	ENSP00000326424.2:n.459+191T>C
ENST00000525200.5:c.359+191T>C
ENST00000528509.5:c.459+191T>C	ENSP00000433472.1:n.459+191T>C
ENST00000529120.5:c.*204+191T>C	ENSP00000437220.1:n.*204+191T>C
NM_018161.4:c.459+191T>C	NP_060631.2:n.459+191T>C
NM_018161.5:c.459+191T>C MANE Select	NP_060631.2:n.459+191T>C