Canonical Allele Identifier: CA394295274

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 2673803
• ClinVar RCV Id: RCV003458299
• MyVariant Identifiers: chr16:g.2096161C>A (hg19) ; chr16:g.2046160C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046160C>A , CM000678.2:g.2046160C>A	GRCh38
NC_000016.9:g.2096161C>A , CM000678.1:g.2096161C>A	GRCh37
NC_000016.8:g.2036162C>A	NCBI36
NG_005895.1:g.1855C>A , LRG_487:g.1855C>A
NG_008412.1:g.6707G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000651522.1:c.31G>T	ENSP00000498290.1:p.Glu11Ter
ENST00000651570.2:c.322G>T MANE Select	ENSP00000498421.1:p.Glu108Ter
ENST00000651583.1:c.277G>T	ENSP00000498821.1:p.Glu93Ter
ENST00000219066.5:c.346G>T	ENSP00000219066.1:p.Glu116Ter
ENST00000561841.1:c.242G>T
ENST00000562120.1:n.55G>T
ENST00000566380.5:c.285G>T
ENST00000568513.5:c.173+120G>T
NM_002528.5:c.346G>T	NP_002519.1:p.Glu116Ter
XM_011522505.1:c.346G>T	XP_011520807.1:p.Glu116Ter
NM_001318193.1:c.346G>T	NP_001305122.1:p.Glu116Ter
NM_001318194.1:c.24+120G>T	NP_001305123.1:n.24+120G>T
NM_002528.6:c.346G>T	NP_002519.1:p.Glu116Ter
XM_017023253.1:c.346G>T	XP_016878742.1:p.Glu116Ter
NM_001318193.2:c.322G>T	NP_001305122.2:p.Glu108Ter
NM_002528.7:c.322G>T MANE Select	NP_002519.2:p.Glu108Ter
NM_001318194.2:c.24+120G>T	NP_001305123.1:n.24+120G>T