Canonical Allele Identifier: CA600050298

Gene: NADSYN1

Linked Data

• dbSNP Id: rs1476399121
• gnomAD v2: 11-71194611-G-A
• gnomAD v3: 11-71483565-G-A
• gnomAD v4: 11-71483565-G-A
• MyVariant Identifiers: chr11:g.71194611G>A (hg19) ; chr11:g.71483565G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71483565G>A , CM000673.2:g.71483565G>A	GRCh38
NC_000011.9:g.71194611G>A , CM000673.1:g.71194611G>A	GRCh37
NC_000011.8:g.70872259G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000319023.7:c.1319+548G>A MANE Select	ENSP00000326424.2:n.1319+548G>A
ENST00000319023.6:c.1319+548G>A	ENSP00000326424.2:n.1319+548G>A
ENST00000524450.1:n.295+548G>A
ENST00000525200.5:c.2625+548G>A
ENST00000526039.6:n.494+548G>A
ENST00000529840.5:c.206+548G>A	ENSP00000437172.1:n.206+548G>A
ENST00000530055.5:c.206+548G>A	ENSP00000431820.1:n.206+548G>A
ENST00000531236.1:n.1384+548G>A
NM_018161.4:c.1319+548G>A	NP_060631.2:n.1319+548G>A
NM_018161.5:c.1319+548G>A MANE Select	NP_060631.2:n.1319+548G>A