Canonical Allele Identifier: CA374197505

Gene: NANS TRIM14

Linked Data

• gnomAD v4: 9-98076954-T-A
• MyVariant Identifiers: chr9:g.100839236T>A (hg19) ; chr9:g.98076954T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98076954T>A , CM000671.2:g.98076954T>A	GRCh38
NC_000009.11:g.100839236T>A , CM000671.1:g.100839236T>A	GRCh37
NC_000009.10:g.99879057T>A	NCBI36
NG_052789.1:g.25278T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000210444.6:c.385T>A (NANS) MANE Select	ENSP00000210444.5:p.Phe129Ile
ENST00000210444.5:c.385T>A (NANS)	ENSP00000210444.5:p.Phe129Ile
ENST00000375098.7:c.*29-7267A>T (TRIM14)	ENSP00000364239.3:n.*29-7267A>T
ENST00000415280.1:c.-170T>A (NANS)	ENSP00000404107.1:n.-170T>A
ENST00000461452.1:n.2312T>A (NANS)
ENST00000495319.1:n.589T>A (NANS)
NM_018946.3:c.385T>A (NANS)	NP_061819.2:p.Phe129Ile
XM_011518787.1:c.37T>A (NANS)	XP_011517089.1:p.Phe13Ile
XM_011518788.1:c.9T>A (NANS)	XP_011517090.1:p.His3Gln
XM_011518787.2:c.37T>A (NANS)	XP_011517089.1:p.Phe13Ile
XM_011518788.2:c.9T>A (NANS)	XP_011517090.1:p.His3Gln
XM_017014811.1:c.-170T>A (NANS)	XP_016870300.1:n.-170T>A
XM_017015352.2:c.*29-4788A>T (TRIM14)	XP_016870841.1:n.*29-4788A>T
XM_024447574.1:c.37T>A (NANS)	XP_024303342.1:p.Phe13Ile
NM_018946.4:c.385T>A (NANS) MANE Select	NP_061819.2:p.Phe129Ile