Canonical Allele Identifier: CA679901148

Gene: NADSYN1

Linked Data

• dbSNP Id: rs1180057004
• gnomAD v3: 11-71483545-G-T
• gnomAD v4: 11-71483545-G-T
• MyVariant Identifiers: chr11:g.71194591G>T (hg19) ; chr11:g.71483545G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71483545G>T , CM000673.2:g.71483545G>T	GRCh38
NC_000011.9:g.71194591G>T , CM000673.1:g.71194591G>T	GRCh37
NC_000011.8:g.70872239G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319023.7:c.1319+528G>T MANE Select	ENSP00000326424.2:n.1319+528G>T
ENST00000319023.6:c.1319+528G>T	ENSP00000326424.2:n.1319+528G>T
ENST00000524450.1:n.295+528G>T
ENST00000525200.5:c.2625+528G>T
ENST00000526039.6:n.494+528G>T
ENST00000529840.5:c.206+528G>T	ENSP00000437172.1:n.206+528G>T
ENST00000530055.5:c.206+528G>T	ENSP00000431820.1:n.206+528G>T
ENST00000531236.1:n.1384+528G>T
NM_018161.4:c.1319+528G>T	NP_060631.2:n.1319+528G>T
NM_018161.5:c.1319+528G>T MANE Select	NP_060631.2:n.1319+528G>T