Canonical Allele Identifier: CA5150271

Gene: NANS TRIM14

Linked Data

• dbSNP Id: rs777787331
• ExAC: 9:100839243 A / G
• gnomAD v2: 9-100839243-A-G
• gnomAD v4: 9-98076961-A-G
• MyVariant Identifiers: chr9:g.100839243A>G (hg19) ; chr9:g.98076961A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98076961A>G , CM000671.2:g.98076961A>G	GRCh38
NC_000009.11:g.100839243A>G , CM000671.1:g.100839243A>G	GRCh37
NC_000009.10:g.99879064A>G	NCBI36
NG_052789.1:g.25285A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000210444.6:c.392A>G (NANS) MANE Select	ENSP00000210444.5:p.Lys131Arg
ENST00000210444.5:c.392A>G (NANS)	ENSP00000210444.5:p.Lys131Arg
ENST00000375098.7:c.*29-7274T>C (TRIM14)	ENSP00000364239.3:n.*29-7274T>C
ENST00000415280.1:c.-163A>G (NANS)	ENSP00000404107.1:n.-163A>G
ENST00000461452.1:n.2319A>G (NANS)
ENST00000495319.1:n.596A>G (NANS)
NM_018946.3:c.392A>G (NANS)	NP_061819.2:p.Lys131Arg
XM_011518787.1:c.44A>G (NANS)	XP_011517089.1:p.Lys15Arg
XM_011518788.1:c.16A>G (NANS)	XP_011517090.1:p.Lys6Glu
XM_011518787.2:c.44A>G (NANS)	XP_011517089.1:p.Lys15Arg
XM_011518788.2:c.16A>G (NANS)	XP_011517090.1:p.Lys6Glu
XM_017014811.1:c.-163A>G (NANS)	XP_016870300.1:n.-163A>G
XM_017015352.2:c.*29-4795T>C (TRIM14)	XP_016870841.1:n.*29-4795T>C
XM_024447574.1:c.44A>G (NANS)	XP_024303342.1:p.Lys15Arg
NM_018946.4:c.392A>G (NANS) MANE Select	NP_061819.2:p.Lys131Arg