Canonical Allele Identifier: CA5150262

Gene: NANS TRIM14

Linked Data

• ClinVar Variation Id: 734153
• ClinVar RCV Id: RCV000909539 ; RCV003950706
• dbSNP Id: rs143387431
• ExAC: 9:100839202 G / A
• gnomAD v2: 9-100839202-G-A
• gnomAD v3: 9-98076920-G-A
• gnomAD v4: 9-98076920-G-A
• MyVariant Identifiers: chr9:g.100839202G>A (hg19) ; chr9:g.98076920G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98076920G>A , CM000671.2:g.98076920G>A	GRCh38
NC_000009.11:g.100839202G>A , CM000671.1:g.100839202G>A	GRCh37
NC_000009.10:g.99879023G>A	NCBI36
NG_052789.1:g.25244G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000210444.6:c.351G>A (NANS) MANE Select	ENSP00000210444.5:p.Met117Ile
ENST00000210444.5:c.351G>A (NANS)	ENSP00000210444.5:p.Met117Ile
ENST00000375098.7:c.*29-7233C>T (TRIM14)	ENSP00000364239.3:n.*29-7233C>T
ENST00000415280.1:c.-204G>A (NANS)	ENSP00000404107.1:n.-204G>A
ENST00000461452.1:n.2278G>A (NANS)
ENST00000495319.1:n.555G>A (NANS)
NM_018946.3:c.351G>A (NANS)	NP_061819.2:p.Met117Ile
XM_011518787.1:c.3G>A (NANS)	XP_011517089.1:p.Met1Ile
XM_011518787.2:c.3G>A (NANS)	XP_011517089.1:p.Met1Ile
XM_017014811.1:c.-204G>A (NANS)	XP_016870300.1:n.-204G>A
XM_017015352.2:c.*29-4754C>T (TRIM14)	XP_016870841.1:n.*29-4754C>T
XM_024447574.1:c.3G>A (NANS)	XP_024303342.1:p.Met1Ile
NM_018946.4:c.351G>A (NANS) MANE Select	NP_061819.2:p.Met117Ile