Canonical Allele Identifier: CA5150272

Gene: NANS TRIM14

Linked Data

• ClinVar Variation Id: 2101088
• ClinVar RCV Id: RCV003033659
• dbSNP Id: rs749393984
• ExAC: 9:100839246 T / C
• gnomAD v2: 9-100839246-T-C
• gnomAD v4: 9-98076964-T-C
• MyVariant Identifiers: chr9:g.100839246T>C (hg19) ; chr9:g.98076964T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98076964T>C , CM000671.2:g.98076964T>C	GRCh38
NC_000009.11:g.100839246T>C , CM000671.1:g.100839246T>C	GRCh37
NC_000009.10:g.99879067T>C	NCBI36
NG_052789.1:g.25288T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000210444.6:c.395T>C (NANS) MANE Select	ENSP00000210444.5:p.Val132Ala
ENST00000210444.5:c.395T>C (NANS)	ENSP00000210444.5:p.Val132Ala
ENST00000375098.7:c.*29-7277A>G (TRIM14)	ENSP00000364239.3:n.*29-7277A>G
ENST00000415280.1:c.-160T>C (NANS)	ENSP00000404107.1:n.-160T>C
ENST00000461452.1:n.2322T>C (NANS)
ENST00000495319.1:n.599T>C (NANS)
NM_018946.3:c.395T>C (NANS)	NP_061819.2:p.Val132Ala
XM_011518787.1:c.47T>C (NANS)	XP_011517089.1:p.Val16Ala
XM_011518788.1:c.19T>C (NANS)	XP_011517090.1:p.Leu7=
XM_011518787.2:c.47T>C (NANS)	XP_011517089.1:p.Val16Ala
XM_011518788.2:c.19T>C (NANS)	XP_011517090.1:p.Leu7=
XM_017014811.1:c.-160T>C (NANS)	XP_016870300.1:n.-160T>C
XM_017015352.2:c.*29-4798A>G (TRIM14)	XP_016870841.1:n.*29-4798A>G
XM_024447574.1:c.47T>C (NANS)	XP_024303342.1:p.Val16Ala
NM_018946.4:c.395T>C (NANS) MANE Select	NP_061819.2:p.Val132Ala