Canonical Allele Identifier: CA224287033

Gene: NADSYN1

Linked Data

• dbSNP Id: rs987095431
• gnomAD v2: 11-71167407-A-G
• gnomAD v3: 11-71456361-A-G
• gnomAD v4: 11-71456361-A-G
• MyVariant Identifiers: chr11:g.71167407A>G (hg19) ; chr11:g.71456361A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71456361A>G , CM000673.2:g.71456361A>G	GRCh38
NC_000011.9:g.71167407A>G , CM000673.1:g.71167407A>G	GRCh37
NC_000011.8:g.70845055A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319023.7:c.146+1191A>G MANE Select	ENSP00000326424.2:n.146+1191A>G
ENST00000319023.6:c.146+1191A>G	ENSP00000326424.2:n.146+1191A>G
ENST00000524949.5:n.212+1191A>G
ENST00000525200.5:c.46+1191A>G
ENST00000525245.1:n.87+1191A>G
ENST00000527538.5:n.202+1191A>G
ENST00000528509.5:c.146+1191A>G	ENSP00000433472.1:n.146+1191A>G
ENST00000529120.5:c.146+1191A>G	ENSP00000437220.1:n.146+1191A>G
ENST00000533769.5:n.212+1191A>G
ENST00000534634.5:n.334+1191A>G
NM_018161.4:c.146+1191A>G	NP_060631.2:n.146+1191A>G
NM_018161.5:c.146+1191A>G MANE Select	NP_060631.2:n.146+1191A>G