Canonical Allele Identifier: CA374197479

Gene: NANS TRIM14

Linked Data

• gnomAD v4: 9-98076948-G-C
• MyVariant Identifiers: chr9:g.100839230G>C (hg19) ; chr9:g.98076948G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98076948G>C , CM000671.2:g.98076948G>C	GRCh38
NC_000009.11:g.100839230G>C , CM000671.1:g.100839230G>C	GRCh37
NC_000009.10:g.99879051G>C	NCBI36
NG_052789.1:g.25272G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000210444.6:c.379G>C (NANS) MANE Select	ENSP00000210444.5:p.Val127Leu
ENST00000210444.5:c.379G>C (NANS)	ENSP00000210444.5:p.Val127Leu
ENST00000375098.7:c.*29-7261C>G (TRIM14)	ENSP00000364239.3:n.*29-7261C>G
ENST00000415280.1:c.-176G>C (NANS)	ENSP00000404107.1:n.-176G>C
ENST00000461452.1:n.2306G>C (NANS)
ENST00000495319.1:n.583G>C (NANS)
NM_018946.3:c.379G>C (NANS)	NP_061819.2:p.Val127Leu
XM_011518787.1:c.31G>C (NANS)	XP_011517089.1:p.Val11Leu
XM_011518788.1:c.3G>C (NANS)	XP_011517090.1:p.Met1Ile
XM_011518787.2:c.31G>C (NANS)	XP_011517089.1:p.Val11Leu
XM_011518788.2:c.3G>C (NANS)	XP_011517090.1:p.Met1Ile
XM_017014811.1:c.-176G>C (NANS)	XP_016870300.1:n.-176G>C
XM_017015352.2:c.*29-4782C>G (TRIM14)	XP_016870841.1:n.*29-4782C>G
XM_024447574.1:c.31G>C (NANS)	XP_024303342.1:p.Val11Leu
NM_018946.4:c.379G>C (NANS) MANE Select	NP_061819.2:p.Val127Leu