Canonical Allele Identifier: CA492953224

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 1731636
• ClinVar RCV Id: RCV003718486 ; RCV002460220
• MyVariant Identifiers: chr16:g.2096162A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046161A>G , CM000678.2:g.2046161A>G	GRCh38
NC_000016.9:g.2096162A>G , CM000678.1:g.2096162A>G	GRCh37
NC_000016.8:g.2036163A>G	NCBI36
NG_005895.1:g.1856A>G , LRG_487:g.1856A>G
NG_008412.1:g.6706T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.30T>C	ENSP00000498290.1:p.Thr10=
ENST00000651570.2:c.321T>C MANE Select	ENSP00000498421.1:p.Thr107=
ENST00000651583.1:c.276T>C	ENSP00000498821.1:p.Thr92=
ENST00000219066.5:c.345T>C	ENSP00000219066.1:p.Thr115=
ENST00000561841.1:c.241T>C
ENST00000562120.1:n.54T>C
ENST00000566380.5:c.284T>C
ENST00000568513.5:c.173+119T>C
NM_002528.5:c.345T>C	NP_002519.1:p.Thr115=
XM_011522505.1:c.345T>C	XP_011520807.1:p.Thr115=
NM_001318193.1:c.345T>C	NP_001305122.1:p.Thr115=
NM_001318194.1:c.24+119T>C	NP_001305123.1:n.24+119T>C
NM_002528.6:c.345T>C	NP_002519.1:p.Thr115=
XM_017023253.1:c.345T>C	XP_016878742.1:p.Thr115=
NM_001318193.2:c.321T>C	NP_001305122.2:p.Thr107=
NM_002528.7:c.321T>C MANE Select	NP_002519.2:p.Thr107=
NM_001318194.2:c.24+119T>C	NP_001305123.1:n.24+119T>C