Canonical Allele Identifier: CA394295209

Gene: NTHL1

Linked Data

• dbSNP Id: rs2150945115
• gnomAD v4: 16-2046153-C-T
• MyVariant Identifiers: chr16:g.2096154C>T (hg19) ; chr16:g.2046153C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046153C>T , CM000678.2:g.2046153C>T	GRCh38
NC_000016.9:g.2096154C>T , CM000678.1:g.2096154C>T	GRCh37
NC_000016.8:g.2036155C>T	NCBI36
NG_005895.1:g.1848C>T , LRG_487:g.1848C>T
NG_008412.1:g.6714G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000651522.1:c.38G>A	ENSP00000498290.1:p.Cys13Tyr
ENST00000651570.2:c.329G>A MANE Select	ENSP00000498421.1:p.Cys110Tyr
ENST00000651583.1:c.284G>A	ENSP00000498821.1:p.Cys95Tyr
ENST00000219066.5:c.353G>A	ENSP00000219066.1:p.Cys118Tyr
ENST00000561841.1:c.249G>A
ENST00000562120.1:n.62G>A
ENST00000566380.5:c.292G>A
ENST00000568513.5:c.173+127G>A
NM_002528.5:c.353G>A	NP_002519.1:p.Cys118Tyr
XM_011522505.1:c.353G>A	XP_011520807.1:p.Cys118Tyr
NM_001318193.1:c.353G>A	NP_001305122.1:p.Cys118Tyr
NM_001318194.1:c.24+127G>A	NP_001305123.1:n.24+127G>A
NM_002528.6:c.353G>A	NP_002519.1:p.Cys118Tyr
XM_017023253.1:c.353G>A	XP_016878742.1:p.Cys118Tyr
NM_001318193.2:c.329G>A	NP_001305122.2:p.Cys110Tyr
NM_002528.7:c.329G>A MANE Select	NP_002519.2:p.Cys110Tyr
NM_001318194.2:c.24+127G>A	NP_001305123.1:n.24+127G>A