Canonical Allele Identifier: CA13421486

Gene: NADSYN1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71456403G>T , CM000673.2:g.71456403G>T	GRCh38
NC_000011.9:g.71167449G>T , CM000673.1:g.71167449G>T	GRCh37
NC_000011.8:g.70845097G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319023.7:c.146+1233G>T MANE Select	ENSP00000326424.2:n.146+1233G>T
ENST00000319023.6:c.146+1233G>T	ENSP00000326424.2:n.146+1233G>T
ENST00000524949.5:n.212+1233G>T
ENST00000525200.5:c.46+1233G>T
ENST00000525245.1:n.87+1233G>T
ENST00000527538.5:n.202+1233G>T
ENST00000528509.5:c.146+1233G>T	ENSP00000433472.1:n.146+1233G>T
ENST00000529120.5:c.146+1233G>T	ENSP00000437220.1:n.146+1233G>T
ENST00000533769.5:n.212+1233G>T
ENST00000534634.5:n.334+1233G>T
NM_018161.4:c.146+1233G>T	NP_060631.2:n.146+1233G>T
NM_018161.5:c.146+1233G>T MANE Select	NP_060631.2:n.146+1233G>T