Canonical Allele Identifier: CA5150254

Gene: NANS TRIM14

Linked Data

• dbSNP Id: rs749535265
• ExAC: 9:100839165 A / G
• gnomAD v2: 9-100839165-A-G
• gnomAD v3: 9-98076883-A-G
• gnomAD v4: 9-98076883-A-G
• MyVariant Identifiers: chr9:g.100839165A>G (hg19) ; chr9:g.98076883A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98076883A>G , CM000671.2:g.98076883A>G	GRCh38
NC_000009.11:g.100839165A>G , CM000671.1:g.100839165A>G	GRCh37
NC_000009.10:g.99878986A>G	NCBI36
NG_052789.1:g.25207A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000210444.6:c.349-35A>G (NANS) MANE Select	ENSP00000210444.5:n.349-35A>G
ENST00000210444.5:c.349-35A>G (NANS)	ENSP00000210444.5:n.349-35A>G
ENST00000375098.7:c.*29-7196T>C (TRIM14)	ENSP00000364239.3:n.*29-7196T>C
ENST00000415280.1:c.-241A>G (NANS)	ENSP00000404107.1:n.-241A>G
ENST00000461452.1:n.2241A>G (NANS)
ENST00000495319.1:n.553-35A>G (NANS)
NM_018946.3:c.349-35A>G (NANS)	NP_061819.2:n.349-35A>G
XM_011518787.1:c.1-35A>G (NANS)	XP_011517089.1:n.1-35A>G
XM_011518787.2:c.1-35A>G (NANS)	XP_011517089.1:n.1-35A>G
XM_017014811.1:c.-206-35A>G (NANS)	XP_016870300.1:n.-206-35A>G
XM_017015352.2:c.*29-4717T>C (TRIM14)	XP_016870841.1:n.*29-4717T>C
XM_024447574.1:c.-35A>G (NANS)	XP_024303342.1:n.-35A>G
NM_018946.4:c.349-35A>G (NANS) MANE Select	NP_061819.2:n.349-35A>G