Canonical Allele Identifier: CA374197475

Gene: NANS TRIM14

Linked Data

• dbSNP Id: rs1829619275
• gnomAD v4: 9-98076947-T-A
• MyVariant Identifiers: chr9:g.100839229T>A (hg19) ; chr9:g.98076947T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98076947T>A , CM000671.2:g.98076947T>A	GRCh38
NC_000009.11:g.100839229T>A , CM000671.1:g.100839229T>A	GRCh37
NC_000009.10:g.99879050T>A	NCBI36
NG_052789.1:g.25271T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000210444.6:c.378T>A (NANS) MANE Select	ENSP00000210444.5:p.Asn126Lys
ENST00000210444.5:c.378T>A (NANS)	ENSP00000210444.5:p.Asn126Lys
ENST00000375098.7:c.*29-7260A>T (TRIM14)	ENSP00000364239.3:n.*29-7260A>T
ENST00000415280.1:c.-177T>A (NANS)	ENSP00000404107.1:n.-177T>A
ENST00000461452.1:n.2305T>A (NANS)
ENST00000495319.1:n.582T>A (NANS)
NM_018946.3:c.378T>A (NANS)	NP_061819.2:p.Asn126Lys
XM_011518787.1:c.30T>A (NANS)	XP_011517089.1:p.Asn10Lys
XM_011518788.1:c.2T>A (NANS)	XP_011517090.1:p.Met1Lys
XM_011518787.2:c.30T>A (NANS)	XP_011517089.1:p.Asn10Lys
XM_011518788.2:c.2T>A (NANS)	XP_011517090.1:p.Met1Lys
XM_017014811.1:c.-177T>A (NANS)	XP_016870300.1:n.-177T>A
XM_017015352.2:c.*29-4781A>T (TRIM14)	XP_016870841.1:n.*29-4781A>T
XM_024447574.1:c.30T>A (NANS)	XP_024303342.1:p.Asn10Lys
NM_018946.4:c.378T>A (NANS) MANE Select	NP_061819.2:p.Asn126Lys