Canonical Allele Identifier: CA7430303

Gene: NDN

Linked Data

• ClinVar Variation Id: 743270
• ClinVar RCV Id: RCV000919611
• dbSNP Id: rs762467635
• ExAC: 15:23932191 G / C
• gnomAD v2: 15-23932191-G-C
• gnomAD v3: 15-23687044-G-C
• gnomAD v4: 15-23687044-G-C
• MyVariant Identifiers: chr15:g.23932191G>C (hg19) ; chr15:g.23687044G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.23687044G>C , CM000677.2:g.23687044G>C	GRCh38
NC_000015.9:g.23932191G>C , CM000677.1:g.23932191G>C	GRCh37
NC_000015.8:g.21483284G>C	NCBI36
NG_009380.1:g.5260C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649030.2:c.174C>G MANE Select	ENSP00000497916.1:p.Pro58=
ENST00000331837.5:c.174C>G	ENSP00000332643.4:p.Pro58=
NM_002487.2:c.174C>G	NP_002478.1:p.Pro58=
NM_002487.3:c.174C>G MANE Select	NP_002478.1:p.Pro58=