Canonical Allele Identifier: CA492953233

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 1697748
• ClinVar RCV Id: RCV002269032
• dbSNP Id: rs2150945346
• MyVariant Identifiers: chr16:g.2096174G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046173G>A , CM000678.2:g.2046173G>A	GRCh38
NC_000016.9:g.2096174G>A , CM000678.1:g.2096174G>A	GRCh37
NC_000016.8:g.2036175G>A	NCBI36
NG_005895.1:g.1868G>A , LRG_487:g.1868G>A
NG_008412.1:g.6694C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.18C>T	ENSP00000498290.1:p.Asp6=
ENST00000651570.2:c.309C>T MANE Select	ENSP00000498421.1:p.Asp103=
ENST00000651583.1:c.264C>T	ENSP00000498821.1:p.Asp88=
ENST00000219066.5:c.333C>T	ENSP00000219066.1:p.Asp111=
ENST00000561841.1:c.229C>T
ENST00000562120.1:n.42C>T
ENST00000566380.5:c.272C>T
ENST00000568513.5:c.173+107C>T
NM_002528.5:c.333C>T	NP_002519.1:p.Asp111=
XM_011522505.1:c.333C>T	XP_011520807.1:p.Asp111=
NM_001318193.1:c.333C>T	NP_001305122.1:p.Asp111=
NM_001318194.1:c.24+107C>T	NP_001305123.1:n.24+107C>T
NM_002528.6:c.333C>T	NP_002519.1:p.Asp111=
XM_017023253.1:c.333C>T	XP_016878742.1:p.Asp111=
NM_001318193.2:c.309C>T	NP_001305122.2:p.Asp103=
NM_002528.7:c.309C>T MANE Select	NP_002519.2:p.Asp103=
NM_001318194.2:c.24+107C>T	NP_001305123.1:n.24+107C>T