Canonical Allele Identifier: CA374197587

Gene: NANS TRIM14

Linked Data

• MyVariant Identifiers: chr9:g.100839244A>C (hg19) ; chr9:g.98076962A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98076962A>C , CM000671.2:g.98076962A>C	GRCh38
NC_000009.11:g.100839244A>C , CM000671.1:g.100839244A>C	GRCh37
NC_000009.10:g.99879065A>C	NCBI36
NG_052789.1:g.25286A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000210444.6:c.393A>C (NANS) MANE Select	ENSP00000210444.5:p.Lys131Asn
ENST00000210444.5:c.393A>C (NANS)	ENSP00000210444.5:p.Lys131Asn
ENST00000375098.7:c.*29-7275T>G (TRIM14)	ENSP00000364239.3:n.*29-7275T>G
ENST00000415280.1:c.-162A>C (NANS)	ENSP00000404107.1:n.-162A>C
ENST00000461452.1:n.2320A>C (NANS)
ENST00000495319.1:n.597A>C (NANS)
NM_018946.3:c.393A>C (NANS)	NP_061819.2:p.Lys131Asn
XM_011518787.1:c.45A>C (NANS)	XP_011517089.1:p.Lys15Asn
XM_011518788.1:c.17A>C (NANS)	XP_011517090.1:p.Lys6Thr
XM_011518787.2:c.45A>C (NANS)	XP_011517089.1:p.Lys15Asn
XM_011518788.2:c.17A>C (NANS)	XP_011517090.1:p.Lys6Thr
XM_017014811.1:c.-162A>C (NANS)	XP_016870300.1:n.-162A>C
XM_017015352.2:c.*29-4796T>G (TRIM14)	XP_016870841.1:n.*29-4796T>G
XM_024447574.1:c.45A>C (NANS)	XP_024303342.1:p.Lys15Asn
NM_018946.4:c.393A>C (NANS) MANE Select	NP_061819.2:p.Lys131Asn