Canonical Allele Identifier: CA679810899

Gene: NADSYN1

Linked Data

• dbSNP Id: rs997652997
• MyVariant Identifiers: chr11:g.71167488T>C (hg19) ; chr11:g.71456442T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71456442T>C , CM000673.2:g.71456442T>C	GRCh38
NC_000011.9:g.71167488T>C , CM000673.1:g.71167488T>C	GRCh37
NC_000011.8:g.70845136T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000319023.7:c.146+1272T>C MANE Select	ENSP00000326424.2:n.146+1272T>C
ENST00000319023.6:c.146+1272T>C	ENSP00000326424.2:n.146+1272T>C
ENST00000524949.5:n.212+1272T>C
ENST00000525200.5:c.46+1272T>C
ENST00000525245.1:n.87+1272T>C
ENST00000527538.5:n.202+1272T>C
ENST00000528509.5:c.146+1272T>C	ENSP00000433472.1:n.146+1272T>C
ENST00000529120.5:c.146+1272T>C	ENSP00000437220.1:n.146+1272T>C
ENST00000533769.5:n.212+1272T>C
ENST00000534634.5:n.334+1272T>C
NM_018161.4:c.146+1272T>C	NP_060631.2:n.146+1272T>C
NM_018161.5:c.146+1272T>C MANE Select	NP_060631.2:n.146+1272T>C