Canonical Allele Identifier: CA374197553

Gene: NANS TRIM14

Linked Data

• MyVariant Identifiers: chr9:g.100839241C>G (hg19) ; chr9:g.98076959C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98076959C>G , CM000671.2:g.98076959C>G	GRCh38
NC_000009.11:g.100839241C>G , CM000671.1:g.100839241C>G	GRCh37
NC_000009.10:g.99879062C>G	NCBI36
NG_052789.1:g.25283C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000210444.6:c.390C>G (NANS) MANE Select	ENSP00000210444.5:p.Phe130Leu
ENST00000210444.5:c.390C>G (NANS)	ENSP00000210444.5:p.Phe130Leu
ENST00000375098.7:c.*29-7272G>C (TRIM14)	ENSP00000364239.3:n.*29-7272G>C
ENST00000415280.1:c.-165C>G (NANS)	ENSP00000404107.1:n.-165C>G
ENST00000461452.1:n.2317C>G (NANS)
ENST00000495319.1:n.594C>G (NANS)
NM_018946.3:c.390C>G (NANS)	NP_061819.2:p.Phe130Leu
XM_011518787.1:c.42C>G (NANS)	XP_011517089.1:p.Phe14Leu
XM_011518788.1:c.14C>G (NANS)	XP_011517090.1:p.Ser5Ter
XM_011518787.2:c.42C>G (NANS)	XP_011517089.1:p.Phe14Leu
XM_011518788.2:c.14C>G (NANS)	XP_011517090.1:p.Ser5Ter
XM_017014811.1:c.-165C>G (NANS)	XP_016870300.1:n.-165C>G
XM_017015352.2:c.*29-4793G>C (TRIM14)	XP_016870841.1:n.*29-4793G>C
XM_024447574.1:c.42C>G (NANS)	XP_024303342.1:p.Phe14Leu
NM_018946.4:c.390C>G (NANS) MANE Select	NP_061819.2:p.Phe130Leu