Canonical Allele Identifier: CA2580080773

Gene: NANS TRIM14

Linked Data

• ClinVar Variation Id: 2017934
• ClinVar RCV Id: RCV002857127
• gnomAD v4: 9-98077034-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98077034T>A , CM000671.2:g.98077034T>A	GRCh38
NC_000009.11:g.100839316T>A , CM000671.1:g.100839316T>A	GRCh37
NC_000009.10:g.99879137T>A	NCBI36
NG_052789.1:g.25358T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000210444.6:c.448+17T>A (NANS) MANE Select	ENSP00000210444.5:n.448+17T>A
ENST00000210444.5:c.448+17T>A (NANS)	ENSP00000210444.5:n.448+17T>A
ENST00000375098.7:c.*29-7347A>T (TRIM14)	ENSP00000364239.3:n.*29-7347A>T
ENST00000415280.1:c.-107+17T>A (NANS)	ENSP00000404107.1:n.-107+17T>A
ENST00000461452.1:n.2375+17T>A (NANS)
ENST00000495319.1:n.652+17T>A (NANS)
NM_018946.3:c.448+17T>A (NANS)	NP_061819.2:n.448+17T>A
XM_011518787.1:c.100+17T>A (NANS)	XP_011517089.1:n.100+17T>A
XM_011518788.1:c.71+18T>A (NANS)	XP_011517090.1:n.71+18T>A
XM_011518787.2:c.100+17T>A (NANS)	XP_011517089.1:n.100+17T>A
XM_011518788.2:c.71+18T>A (NANS)	XP_011517090.1:n.71+18T>A
XM_017014811.1:c.-107+17T>A (NANS)	XP_016870300.1:n.-107+17T>A
XM_017015352.2:c.*29-4868A>T (TRIM14)	XP_016870841.1:n.*29-4868A>T
XM_024447574.1:c.100+17T>A (NANS)	XP_024303342.1:n.100+17T>A
NM_018946.4:c.448+17T>A (NANS) MANE Select	NP_061819.2:n.448+17T>A