Canonical Allele Identifier: CA394295158

Gene: NTHL1

Linked Data

• MyVariant Identifiers: chr16:g.2096150A>T (hg19) ; chr16:g.2046149A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046149A>T , CM000678.2:g.2046149A>T	GRCh38
NC_000016.9:g.2096150A>T , CM000678.1:g.2096150A>T	GRCh37
NC_000016.8:g.2036151A>T	NCBI36
NG_005895.1:g.1844A>T , LRG_487:g.1844A>T
NG_008412.1:g.6718T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000651522.1:c.42T>A	ENSP00000498290.1:p.Tyr14Ter
ENST00000651570.2:c.333T>A MANE Select	ENSP00000498421.1:p.Tyr111Ter
ENST00000651583.1:c.288T>A	ENSP00000498821.1:p.Tyr96Ter
ENST00000219066.5:c.357T>A	ENSP00000219066.1:p.Tyr119Ter
ENST00000561841.1:c.253T>A
ENST00000562120.1:n.66T>A
ENST00000566380.5:c.296T>A
ENST00000568513.5:c.173+131T>A
NM_002528.5:c.357T>A	NP_002519.1:p.Tyr119Ter
XM_011522505.1:c.357T>A	XP_011520807.1:p.Tyr119Ter
NM_001318193.1:c.357T>A	NP_001305122.1:p.Tyr119Ter
NM_001318194.1:c.24+131T>A	NP_001305123.1:n.24+131T>A
NM_002528.6:c.357T>A	NP_002519.1:p.Tyr119Ter
XM_017023253.1:c.357T>A	XP_016878742.1:p.Tyr119Ter
NM_001318193.2:c.333T>A	NP_001305122.2:p.Tyr111Ter
NM_002528.7:c.333T>A MANE Select	NP_002519.2:p.Tyr111Ter
NM_001318194.2:c.24+131T>A	NP_001305123.1:n.24+131T>A