Canonical Allele Identifier: CA224287074

Gene: NADSYN1

Linked Data

• dbSNP Id: rs775647957
• gnomAD v3: 11-71456423-G-A
• gnomAD v4: 11-71456423-G-A
• MyVariant Identifiers: chr11:g.71167469G>A (hg19) ; chr11:g.71456423G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71456423G>A , CM000673.2:g.71456423G>A	GRCh38
NC_000011.9:g.71167469G>A , CM000673.1:g.71167469G>A	GRCh37
NC_000011.8:g.70845117G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000319023.7:c.146+1253G>A MANE Select	ENSP00000326424.2:n.146+1253G>A
ENST00000319023.6:c.146+1253G>A	ENSP00000326424.2:n.146+1253G>A
ENST00000524949.5:n.212+1253G>A
ENST00000525200.5:c.46+1253G>A
ENST00000525245.1:n.87+1253G>A
ENST00000527538.5:n.202+1253G>A
ENST00000528509.5:c.146+1253G>A	ENSP00000433472.1:n.146+1253G>A
ENST00000529120.5:c.146+1253G>A	ENSP00000437220.1:n.146+1253G>A
ENST00000533769.5:n.212+1253G>A
ENST00000534634.5:n.334+1253G>A
NM_018161.4:c.146+1253G>A	NP_060631.2:n.146+1253G>A
NM_018161.5:c.146+1253G>A MANE Select	NP_060631.2:n.146+1253G>A