Canonical Allele Identifier: CA16420643

Gene: NADSYN1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71483513G>A , CM000673.2:g.71483513G>A	GRCh38
NC_000011.9:g.71194559G>A , CM000673.1:g.71194559G>A	GRCh37
NC_000011.8:g.70872207G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319023.7:c.1319+496G>A MANE Select	ENSP00000326424.2:n.1319+496G>A
ENST00000319023.6:c.1319+496G>A	ENSP00000326424.2:n.1319+496G>A
ENST00000524450.1:n.295+496G>A
ENST00000525200.5:c.2625+496G>A
ENST00000526039.6:n.494+496G>A
ENST00000529840.5:c.206+496G>A	ENSP00000437172.1:n.206+496G>A
ENST00000530055.5:c.206+496G>A	ENSP00000431820.1:n.206+496G>A
ENST00000531236.1:n.1384+496G>A
NM_018161.4:c.1319+496G>A	NP_060631.2:n.1319+496G>A
NM_018161.5:c.1319+496G>A MANE Select	NP_060631.2:n.1319+496G>A