Canonical Allele Identifier: CA2690915383

Gene: NANS TRIM14

Linked Data

• gnomAD v4: 9-98077074-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98077074C>A , CM000671.2:g.98077074C>A	GRCh38
NC_000009.11:g.100839356C>A , CM000671.1:g.100839356C>A	GRCh37
NC_000009.10:g.99879177C>A	NCBI36
NG_052789.1:g.25398C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000210444.6:c.448+57C>A (NANS) MANE Select	ENSP00000210444.5:n.448+57C>A
ENST00000210444.5:c.448+57C>A (NANS)	ENSP00000210444.5:n.448+57C>A
ENST00000375098.7:c.*29-7387G>T (TRIM14)	ENSP00000364239.3:n.*29-7387G>T
ENST00000415280.1:c.-107+57C>A (NANS)	ENSP00000404107.1:n.-107+57C>A
ENST00000461452.1:n.2375+57C>A (NANS)
ENST00000495319.1:n.652+57C>A (NANS)
NM_018946.3:c.448+57C>A (NANS)	NP_061819.2:n.448+57C>A
XM_011518787.1:c.100+57C>A (NANS)	XP_011517089.1:n.100+57C>A
XM_011518788.1:c.71+58C>A (NANS)	XP_011517090.1:n.71+58C>A
XM_011518787.2:c.100+57C>A (NANS)	XP_011517089.1:n.100+57C>A
XM_011518788.2:c.71+58C>A (NANS)	XP_011517090.1:n.71+58C>A
XM_017014811.1:c.-107+57C>A (NANS)	XP_016870300.1:n.-107+57C>A
XM_017015352.2:c.*29-4908G>T (TRIM14)	XP_016870841.1:n.*29-4908G>T
XM_024447574.1:c.100+57C>A (NANS)	XP_024303342.1:n.100+57C>A
NM_018946.4:c.448+57C>A (NANS) MANE Select	NP_061819.2:n.448+57C>A