Canonical Allele Identifier: CA394295161

Gene: NTHL1

Linked Data

• MyVariant Identifiers: chr16:g.2096151T>A (hg19) ; chr16:g.2046150T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046150T>A , CM000678.2:g.2046150T>A	GRCh38
NC_000016.9:g.2096151T>A , CM000678.1:g.2096151T>A	GRCh37
NC_000016.8:g.2036152T>A	NCBI36
NG_005895.1:g.1845T>A , LRG_487:g.1845T>A
NG_008412.1:g.6717A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000651522.1:c.41A>T	ENSP00000498290.1:p.Tyr14Phe
ENST00000651570.2:c.332A>T MANE Select	ENSP00000498421.1:p.Tyr111Phe
ENST00000651583.1:c.287A>T	ENSP00000498821.1:p.Tyr96Phe
ENST00000219066.5:c.356A>T	ENSP00000219066.1:p.Tyr119Phe
ENST00000561841.1:c.252A>T
ENST00000562120.1:n.65A>T
ENST00000566380.5:c.295A>T
ENST00000568513.5:c.173+130A>T
NM_002528.5:c.356A>T	NP_002519.1:p.Tyr119Phe
XM_011522505.1:c.356A>T	XP_011520807.1:p.Tyr119Phe
NM_001318193.1:c.356A>T	NP_001305122.1:p.Tyr119Phe
NM_001318194.1:c.24+130A>T	NP_001305123.1:n.24+130A>T
NM_002528.6:c.356A>T	NP_002519.1:p.Tyr119Phe
XM_017023253.1:c.356A>T	XP_016878742.1:p.Tyr119Phe
NM_001318193.2:c.332A>T	NP_001305122.2:p.Tyr111Phe
NM_002528.7:c.332A>T MANE Select	NP_002519.2:p.Tyr111Phe
NM_001318194.2:c.24+130A>T	NP_001305123.1:n.24+130A>T